The targeting vector is designed to insert a loxP-flanked neomycin (neo) resistance cassette downstream of exon 10 of the gene. A T to G transition was introduced in exon 11, corresponding to human amino acid 468, resulting in a mutation, S467A. Cre-mediated recombination removed the upstream floxed neo cassette. (J:251115)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Single point
--
1
4
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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