ENU-induced T to C transition at base pair 63,384,002 (v38) on chromosome 14, or base pair 33,186 in the GenBank genomic region NC_000080. The mutation corresponds to residue 697 in the NM_007549 mRNA sequence in exon 5 of 13 total exons. The mutation results in a serine (S) to proline (P) substitution at position 93 (S93P) in the protein. (J:255004)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
3
--

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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