ENU-induced T to C transition at base pair 149,652,699 (v38) on chromosome 4, or base pair 49,868 in the GenBank genomic region NC_000070. The mutation corresponds to residue 2,917 in the mRNA sequence NM_001029837 within exon 20 of 23 total exons. The mutation results in a leucine (L) to proline (P) substitution at position 880 (L880P) in all isoforms. (J:236693)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
4
--

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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