Insertional Mutation on Mouse Chromosome 18 With Vestibular and Craniofacial Abnormalities
A dominant mutation was generated in transgenic mice as a consequence of insertional mutation. Heterozygous mice from transgenic line 9257 (Tg9257) are hyperactive with bidirectional circling behavior and have a distinctive facial appearance due to hypoplasia of the nasal bone. Morphological analysi...
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| Veröffentlicht in: | Genetics (Austin) 1994-01, Vol.136 (1), p.247-254 |
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| creator | Ting, C. N Kohrman, D Burgess, D. L Boyle, A Altschuler, R. A Gholizadeh, G Samuelson, L. C Jang, W Meisler, M. H |
| description | A dominant mutation was generated in transgenic mice as a consequence of insertional mutation. Heterozygous mice from transgenic line 9257 (Tg9257) are hyperactive with bidirectional circling behavior and have a distinctive facial appearance due to hypoplasia of the nasal bone. Morphological analysis of the inner ear revealed asymmetric abnormalities of the horizontal canal and flattening or invagination of the crista ampullaris, which can account for the circling behavior. The sensory epithelium appeared to be normal. The transgene insertion site was localized by in situ hybridization to the B1 band of mouse chromosome 18. Genetic mapping in an interspecific backcross demonstrated the gene order centromere--Tg9257--8.8 +/- 3.4--Grl-1, Egr-1, Fgf-1, Apc--14.7 +/- 4.3--Pdgfr. The phenotype and the mapping data suggest that the transgene may be inserted at the Twirler locus. Homozygosity for the transgene results in prenatal lethality, but compound heterozygotes carrying the Tw allele and the transgene are viable. The function of the closely linked ataxia locus is not disrupted by the transgene insertion. This insertional mutant will provide molecular access to genes located in the Twirler region of mouse chromosome 18. |
| doi_str_mv | 10.1093/genetics/136.1.247 |
| format | Article |
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N ; Kohrman, D ; Burgess, D. L ; Boyle, A ; Altschuler, R. A ; Gholizadeh, G ; Samuelson, L. C ; Jang, W ; Meisler, M. H</creator><creatorcontrib>Ting, C. N ; Kohrman, D ; Burgess, D. L ; Boyle, A ; Altschuler, R. A ; Gholizadeh, G ; Samuelson, L. C ; Jang, W ; Meisler, M. H</creatorcontrib><description>A dominant mutation was generated in transgenic mice as a consequence of insertional mutation. Heterozygous mice from transgenic line 9257 (Tg9257) are hyperactive with bidirectional circling behavior and have a distinctive facial appearance due to hypoplasia of the nasal bone. Morphological analysis of the inner ear revealed asymmetric abnormalities of the horizontal canal and flattening or invagination of the crista ampullaris, which can account for the circling behavior. The sensory epithelium appeared to be normal. The transgene insertion site was localized by in situ hybridization to the B1 band of mouse chromosome 18. Genetic mapping in an interspecific backcross demonstrated the gene order centromere--Tg9257--8.8 +/- 3.4--Grl-1, Egr-1, Fgf-1, Apc--14.7 +/- 4.3--Pdgfr. The phenotype and the mapping data suggest that the transgene may be inserted at the Twirler locus. Homozygosity for the transgene results in prenatal lethality, but compound heterozygotes carrying the Tw allele and the transgene are viable. The function of the closely linked ataxia locus is not disrupted by the transgene insertion. This insertional mutant will provide molecular access to genes located in the Twirler region of mouse chromosome 18.</description><identifier>ISSN: 0016-6731</identifier><identifier>ISSN: 1943-2631</identifier><identifier>EISSN: 1943-2631</identifier><identifier>DOI: 10.1093/genetics/136.1.247</identifier><identifier>PMID: 7511123</identifier><identifier>CODEN: GENTAE</identifier><language>eng</language><publisher>Bethesda, MD: Genetics Soc America</publisher><subject>Amylases - biosynthesis ; Amylases - genetics ; Animals ; Biological and medical sciences ; Chromosome Mapping ; Classical genetics, quantitative genetics, hybrids ; Crosses, Genetic ; DNA Transposable Elements ; Facial Bones - abnormalities ; Female ; Fundamental and applied biological sciences. Psychology ; Genes, Dominant ; Genes, Recessive ; Genetic Markers ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Heterozygote ; Humans ; In Situ Hybridization ; Investigations ; Male ; Mice ; Mice, Inbred C3H ; Mice, Inbred C57BL ; Mice, Transgenic - genetics ; Motor Activity ; Muridae ; Mutation ; Polymorphism, Restriction Fragment Length ; Rodents ; Skull - abnormalities ; Stereotyped Behavior ; Vertebrata ; Vestibule, Labyrinth - abnormalities</subject><ispartof>Genetics (Austin), 1994-01, Vol.136 (1), p.247-254</ispartof><rights>1994 INIST-CNRS</rights><rights>Copyright Genetics Society of America Jan 1994</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c515t-3e1a70233f8912746db1a3e41a035a8cd6d360008c681d8c194a9ad93df939c23</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,4010,27900,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3882352$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7511123$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ting, C. N</creatorcontrib><creatorcontrib>Kohrman, D</creatorcontrib><creatorcontrib>Burgess, D. L</creatorcontrib><creatorcontrib>Boyle, A</creatorcontrib><creatorcontrib>Altschuler, R. A</creatorcontrib><creatorcontrib>Gholizadeh, G</creatorcontrib><creatorcontrib>Samuelson, L. C</creatorcontrib><creatorcontrib>Jang, W</creatorcontrib><creatorcontrib>Meisler, M. H</creatorcontrib><title>Insertional Mutation on Mouse Chromosome 18 With Vestibular and Craniofacial Abnormalities</title><title>Genetics (Austin)</title><addtitle>Genetics</addtitle><description>A dominant mutation was generated in transgenic mice as a consequence of insertional mutation. Heterozygous mice from transgenic line 9257 (Tg9257) are hyperactive with bidirectional circling behavior and have a distinctive facial appearance due to hypoplasia of the nasal bone. Morphological analysis of the inner ear revealed asymmetric abnormalities of the horizontal canal and flattening or invagination of the crista ampullaris, which can account for the circling behavior. The sensory epithelium appeared to be normal. The transgene insertion site was localized by in situ hybridization to the B1 band of mouse chromosome 18. Genetic mapping in an interspecific backcross demonstrated the gene order centromere--Tg9257--8.8 +/- 3.4--Grl-1, Egr-1, Fgf-1, Apc--14.7 +/- 4.3--Pdgfr. The phenotype and the mapping data suggest that the transgene may be inserted at the Twirler locus. Homozygosity for the transgene results in prenatal lethality, but compound heterozygotes carrying the Tw allele and the transgene are viable. The function of the closely linked ataxia locus is not disrupted by the transgene insertion. This insertional mutant will provide molecular access to genes located in the Twirler region of mouse chromosome 18.</description><subject>Amylases - biosynthesis</subject><subject>Amylases - genetics</subject><subject>Animals</subject><subject>Biological and medical sciences</subject><subject>Chromosome Mapping</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>Crosses, Genetic</subject><subject>DNA Transposable Elements</subject><subject>Facial Bones - abnormalities</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genes, Dominant</subject><subject>Genes, Recessive</subject><subject>Genetic Markers</subject><subject>Genetics</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>In Situ Hybridization</subject><subject>Investigations</subject><subject>Male</subject><subject>Mice</subject><subject>Mice, Inbred C3H</subject><subject>Mice, Inbred C57BL</subject><subject>Mice, Transgenic - genetics</subject><subject>Motor Activity</subject><subject>Muridae</subject><subject>Mutation</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Rodents</subject><subject>Skull - abnormalities</subject><subject>Stereotyped Behavior</subject><subject>Vertebrata</subject><subject>Vestibule, Labyrinth - abnormalities</subject><issn>0016-6731</issn><issn>1943-2631</issn><issn>1943-2631</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkV9rFDEUxYModa1-AUEYRHybbW7uJJN5EcpitdDii3_Al3A3k9lNmZnUZMbFb98sXbfqixBI4J6ce8_9MfYS-BJ4g2cbN7rJ23QGqJawFFX9iC2gqbAUCuExW3AOqlQ1wlP2LKUbzrlqpD5hJ7UEAIEL9v1yTC5OPozUF9fzRPtnkc91mJMrVtsYhpDC4ArQxTc_bYuvLk1-PfcUCxrbYhVp9KEj67PB-XoMcaDeT96l5-xJR31yLw73Kfty8f7z6mN59enD5er8qrQS5FSiA6q5QOx0A6KuVLsGQlcBcZSkbataVHlybZWGVtucjxpqG2y7Bhsr8JS9u_e9ndeDa60bp0i9uY1-oPjLBPLm78rot2YTfhoQXNa1ygZvDwYx_JhzPDP4ZF3f0-jyFkytKq5Ryv8KQWlZgd47vv5HeBPmmFecjIAKRO6MWSTuRTaGlKLrjiMDN3u-5jdfk_kaMJlv_vTqz7DHLweguf7mUKdkqe8yHevTUYZaC5TiIcnWb7Y7H51JGVufTcHsdruHfneWFL1c</recordid><startdate>19940101</startdate><enddate>19940101</enddate><creator>Ting, C. 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A ; Gholizadeh, G ; Samuelson, L. C ; Jang, W ; Meisler, M. H</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c515t-3e1a70233f8912746db1a3e41a035a8cd6d360008c681d8c194a9ad93df939c23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Amylases - biosynthesis</topic><topic>Amylases - genetics</topic><topic>Animals</topic><topic>Biological and medical sciences</topic><topic>Chromosome Mapping</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>Crosses, Genetic</topic><topic>DNA Transposable Elements</topic><topic>Facial Bones - abnormalities</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genes, Dominant</topic><topic>Genes, Recessive</topic><topic>Genetic Markers</topic><topic>Genetics</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>In Situ Hybridization</topic><topic>Investigations</topic><topic>Male</topic><topic>Mice</topic><topic>Mice, Inbred C3H</topic><topic>Mice, Inbred C57BL</topic><topic>Mice, Transgenic - genetics</topic><topic>Motor Activity</topic><topic>Muridae</topic><topic>Mutation</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Rodents</topic><topic>Skull - abnormalities</topic><topic>Stereotyped Behavior</topic><topic>Vertebrata</topic><topic>Vestibule, Labyrinth - abnormalities</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ting, C. N</creatorcontrib><creatorcontrib>Kohrman, D</creatorcontrib><creatorcontrib>Burgess, D. L</creatorcontrib><creatorcontrib>Boyle, A</creatorcontrib><creatorcontrib>Altschuler, R. A</creatorcontrib><creatorcontrib>Gholizadeh, G</creatorcontrib><creatorcontrib>Samuelson, L. 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N</au><au>Kohrman, D</au><au>Burgess, D. L</au><au>Boyle, A</au><au>Altschuler, R. A</au><au>Gholizadeh, G</au><au>Samuelson, L. C</au><au>Jang, W</au><au>Meisler, M. H</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Insertional Mutation on Mouse Chromosome 18 With Vestibular and Craniofacial Abnormalities</atitle><jtitle>Genetics (Austin)</jtitle><addtitle>Genetics</addtitle><date>1994-01-01</date><risdate>1994</risdate><volume>136</volume><issue>1</issue><spage>247</spage><epage>254</epage><pages>247-254</pages><issn>0016-6731</issn><issn>1943-2631</issn><eissn>1943-2631</eissn><coden>GENTAE</coden><abstract>A dominant mutation was generated in transgenic mice as a consequence of insertional mutation. Heterozygous mice from transgenic line 9257 (Tg9257) are hyperactive with bidirectional circling behavior and have a distinctive facial appearance due to hypoplasia of the nasal bone. Morphological analysis of the inner ear revealed asymmetric abnormalities of the horizontal canal and flattening or invagination of the crista ampullaris, which can account for the circling behavior. The sensory epithelium appeared to be normal. The transgene insertion site was localized by in situ hybridization to the B1 band of mouse chromosome 18. Genetic mapping in an interspecific backcross demonstrated the gene order centromere--Tg9257--8.8 +/- 3.4--Grl-1, Egr-1, Fgf-1, Apc--14.7 +/- 4.3--Pdgfr. The phenotype and the mapping data suggest that the transgene may be inserted at the Twirler locus. Homozygosity for the transgene results in prenatal lethality, but compound heterozygotes carrying the Tw allele and the transgene are viable. The function of the closely linked ataxia locus is not disrupted by the transgene insertion. This insertional mutant will provide molecular access to genes located in the Twirler region of mouse chromosome 18.</abstract><cop>Bethesda, MD</cop><pub>Genetics Soc America</pub><pmid>7511123</pmid><doi>10.1093/genetics/136.1.247</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Genetics (Austin), 1994-01, Vol.136 (1), p.247-254 |
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| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1205776 |
| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | Amylases - biosynthesis Amylases - genetics Animals Biological and medical sciences Chromosome Mapping Classical genetics, quantitative genetics, hybrids Crosses, Genetic DNA Transposable Elements Facial Bones - abnormalities Female Fundamental and applied biological sciences. Psychology Genes, Dominant Genes, Recessive Genetic Markers Genetics Genetics of eukaryotes. Biological and molecular evolution Heterozygote Humans In Situ Hybridization Investigations Male Mice Mice, Inbred C3H Mice, Inbred C57BL Mice, Transgenic - genetics Motor Activity Muridae Mutation Polymorphism, Restriction Fragment Length Rodents Skull - abnormalities Stereotyped Behavior Vertebrata Vestibule, Labyrinth - abnormalities |
| title | Insertional Mutation on Mouse Chromosome 18 With Vestibular and Craniofacial Abnormalities |
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