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The mutation in the kumba mouse was identified as a T to A transversion at coding nucleotide 1105. The resulting missense mutation (p.C369S), is located in the fourth zinc finger domain and the altered cysteine is a canonical residue required to to chelate zinc. Mutations in equivalent residues of other zinc finger proteins predict that this substitution would abolish the function of the zinc finger domain. (J:86841)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
