ENU-induced A to G transition at base pair 124,728,419 (v38) on chromosome 6, or base pair 10,291 in the GenBank genomic region NC_000072 encoding. The mutation corresponds to residue 866 in the mRNA sequence NM_013545 within exon 6 of 16 total exons and residue 868 in the mRNA sequence NM_001077705 within exon 6 of 16 total exons. The mutation results in an aspartic acid (D) to glycine (G) substitution at position 219 (D219G) in variant 1 and D224G in variant 2 of the protein. (J:234259)

Basic Information

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

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

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PMID
Journal
Year
IF
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