ENU-induced A to G transition at base pair 11,283,849 (v38) on chromosome 2, or base pair 111,946 in the GenBank genomic region NC_000068. The mutation corresponds to residue 1,700 in the mRNA sequence NM_008859 within exon 15 of 18 total exons. The mutation results in a threonine (T) to alanine (A) substitution at position 538 (T538A) in the protein. (J:255214)

Basic Information

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

Title
PMID
Journal
Year
IF
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