A C to T mutation (c.644C>T) was engineered in exon 3 to change proline codon 215 to a leucine codon (p.P215L). This mutation mimics the p.P209L mutation associated with severe childhood cardiomyopathy in humans. An FRT site flanked neomycin resistance gene cassette that was inserted into intron 2, was removed through subsequent flp-mediated recombination. (J:272259)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Single point
--
1
7
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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