ENU-induced A to C transition at base pair 73,075,544 (v38) on chromosome 9, or base pair 30,735 in the GenBank genomic region NC_000075. The mutation corresponds to residue 503 in the mRNA sequence NM_001301230 (isoform 1) within exon 3 of 7 total exons, residue 354 in the mRNA sequence NM_023635 (isoform 2) within exon 2 of 6 total exons, and residue 396 in the mRNA sequence NM_001301232 (isoform 3) within exon 2 of 6 total exons. The mutation results in an isoleucine (I) to leucine (L) substitution at position 44 (I44L). (J:231802)

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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