ENU mutagenesis induced a G to A transition at base pair 70,571,448 (v38) on chromosome 14, or base pair 17,393 in the GenBank genomic region NC_000080 encoding Hr. The mutation corresponds to residue 3,957 in the mRNA sequence NM_021877 within exon 18 of 20 total exons. The mutation results in an arginine (R) to histidine (H) substitution at position 1117 (R1117H) in the ENSMUSP00000124042 isoform of the Hairless (HR) protein and R1088H in the NP_068677 isoform of HR. (J:218969)

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

Title
PMID
Journal
Year
IF
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