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A single G nucleotide was inserted at position 1925 in exon 13, resulting in a reading frameshift and premature stop codon (p.G643WfsX12). This mutation is equivalent to p.G646WfsX12, the most common mutation in the human ortholog. LoxP sites were inserted into introns 11 and 12. The FRT site flanked neomycin resistance gene cassette that was inserted downstream of the loxP site in intron 12, was removed through subsequent flp-mediated recombination. (J:270023)
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
