A mutation was engineered in exon 13 to change asparagine codon 617 (AAC) to an aspartic acid codon (GAC)(p.N617D) and a loxP site, an FRT site flanked protamine-cre cassette, a neomycin resistance gene cassette and a second loxP site were inserted in opposite transcriptional orientation into intron 12. The floxed cre plus neo cassette pair was self-excised in male germline through the protamine promotor-driven expression of Cre. The mutation in this allele creates a non-Ca2+-conducting form of the encoded peptide. (J:252980)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NTac
Targeted
Insertion, Single point
--
1
7
3

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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