ENU-induced G to T transversion at base pair 79,733,773 (v38) on chromosome 10, or base pair 17,140 in the GenBank genomic region NC_000076 encoding Hcn2. The mutation corresponds to residue 1,641 in the mRNA sequence NM_178666 within exon 6 of 8 total exons. The mutation results in substitution of glutamic acid 536 for a premature stop codon (E536*) in the HCN2 protein. (J:267669)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Chemically induced
Single point
Recessive
1
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

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PMID
Journal
Year
IF
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