ENU-induced A to G transition at base pair 87,705,964 (v38) on chromosome 1, or base pair or 85,653 in the GenBank genomic region, NC_000067. The mutation corresponds to residue 2,288 in the mRNA sequence NM_010566 within exon 19 of 27 total exons. The mutation results in substitution of histidine 704 for an arginine (H704R) in the protein. (J:254907)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Other (see notes)
1
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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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