ENU-induced A to T transversion at base pair 106,301,404 (v38) on chromosome 11, or base pair 2,300 in the GenBank genomic region NC_000077.6. The mutation corresponds to residue 310 (c.310A>T) in the mRNA sequence NM_008117.3 within exon 2 of 5 total exons. The mutation results in substitution of lysine 55 for a premature stop codon (p.K55*) in the GH protein. (J:274650)

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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