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| Nomenclature |
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Symbol:
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Otcspf-ash
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Name:
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ornithine transcarbamylase;
abnormal skin and hair
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MGI ID: |
MGI:1856179 |
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Synonyms: |
spfash, spf-ash |
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Gene:
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Otc
Location:
ChrX:10252305-10321024 bp, + strand
Genetic Position: ChrX,
4.66 cM, cytoband A1
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Mutation
origin |
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Strain of Origin:
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Not Specified
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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 missense transition of the last nucleotide of exon 4 changes an arginine to histidine (R129H) and results in inefficient mRNA splicing at this site, as well as at a site located 48 bases into the adjacent intron. This allele is hypomorphic; approximately 5-10% of wild-type hepatic enzyme activity is retained. (J:9817)
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Inheritance: | |
Semidominant |
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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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| References |
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Original: |
J:5476
Doolittle DP et al.,
"A new allele of the sparse fur gene in the mouse."
J Hered 1974 May-Jun;65(3):194-5
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All: |
20 reference(s)
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Analysis Tools
