An 8 base pair deletion in the region of exon 2, which encodes the homeodomain, results in a frameshift beginning at amino acid 226 that is predicted to replace the C-terminal 106 amino acids with an anomalous 171 amino acids. (J:147782)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H/HeJ
Spontaneous
Intragenic deletion
Recessive
1
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

Title
PMID
Journal
Year
IF
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