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The molecular lesion in the head slant mouse is a single insertion of a deoxyadenosine residue into exon 1, 28 nucleotides from the start codon. This frameshift mutation is predicted to result in a truncation of the encoded protein after the 34th amino acid. In addition, the transgenic expression of the wild-type gene rescued the defects in the homozygous mutant mouse. (J:106332)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
