ENU-induced T to A transversion at base pair 11,769,448 (v38) on chromosome 11, or base pair 84,479 in the GenBank genomic region NC_000077 encoding Ikzf1. The mutation corresponds to residue 1,972 in the mRNA sequence NM_001025597 within exon 8 of 8 total exons. The mutation results in a methionine to lysine substitution at amino acid 472 (M472K) in variant 1 of the IKZF1 protein. (J:265249)

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

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PMID
Journal
Year
IF
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