ENU-induced A to T transversion at base pair 44,679,494 (v38) on chromosome 4, or base pair 30,947 in the GenBank genomic region NC_000070. The mutation corresponds to residue 582 in the mRNA sequence NM_008782 within exon 5 of 10 total exons and to residue 284 in the cDNA sequence ENSMUST00000186542.1 within exon 3 of 3 total exons. The mutated nucleotide is indicated in red. The mutation results in a histidine (H) to leucine (L) substitution at position 95 (H95L) in the protein encoded by the ENSMUST00000186542.1 cDNA transcript and a isoleucine (I) to phenylalanine substitution at position 184 in the protein encoded by the NM_008782 mRNA transcript. (J:254824)

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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