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A floxed neo cassette was inserted downstream of exon 6. The genomic sequence corresponding to exons 7 through 10 was replaced with the corresponding human sequence with nucleotide substitutions that result in the amino acid substitution of alanine for valine at position 726 (p.V726A). The amino acid substitutions within exon 10 occur in the human-specific B30.2 domain. Cre-mediated recombination removed the neo cassette. (J:172117)
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
