ENU-induced C to T transition at base pair 76,229,554 (v38) on chromosome 5, or base pair 75,447 in the GenBank genomic region NC_000071 encoding Clock. The mutation corresponds to residue 2,285 in the NM_007715 mRNA sequence in exon 21 of 23 total exons, residue 2,242 in the NM_001289826 mRNA sequence in exon 21 of 23 total exons, and residue 2,101 in the NM_001305222 mRNA sequence in exon 21 of 23 total exons. The mutation results in substitution of glutamine 633 to a premature stop codon (Q633*) in the CLOCK protein. (J:264640)

Basic Information

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