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| Nomenclature |
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Symbol:
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Cdh23v-bus
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Name:
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cadherin 23 (otocadherin);
bustling waltzer
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MGI ID: |
MGI:1856681 |
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Synonyms: |
BUS/Idr |
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Gene:
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Cdh23
Location:
Chr10:60302748-60696490 bp, - strand
Genetic Position: Chr10,
30.11 cM
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Mutation
origin |
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Strain of Origin:
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KYF/MsIdr
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: A G to A substitution is located at the splice site of the exon/intron 67. Two mutant transcripts are produced; one containing all of intron 67, exon 68, 8 bp of intron 68 and exon 69 and the other containing 164 bp of intron 67 and exons 68 and 69. In the first transcript a termination codon is located within intron 67. In the second transcript a termination codon is located at the beginning of exon 68. Expression of these transcripts is seen in the inner ear; however, western blot analysis failed to detect multiple protein isoforms in homozygous mice. (J:57150, J:174759)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Cdh23, bustling, recessive. An inbred strain bearing Jsr at the Institute for Developmental Research in Japan produced offspring expressing a hyperkinetic behavior pattern. When crossed to the KYF/MsIdr inbred strain, the abnormality did not appear in the F1 generation, but reappeared in 21% of F2 mice and 44% of mice from a backcross to bustling forebears. These proportions were not significantly different from those expected for a recessive autosomal trait. Hyperkinetic females reproduce well, but it is difficult for them to care for neonatal offspring (J:12975).
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| References |
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Analysis Tools
