The mutation is a T to C transition at base pair 13,740,536 (Build 38) on Chromosome 13, or base pair 150,198 in the GenBank genomic region NC_000079, within exon 43 of the gene's 53 total exons; this corresponds to nucleotide 9,995 in the mRNA sequence NM_178666. The mutation results in a serine (S) to proline (P) substitution at amino acid position 3272 (S3272P) of the protein. (J:220065)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
2
--

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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