The targeting construct contained Fgfr2 exons IIa, IIb, IIIc, and exon 10, which codes for the transmembrane domain, a floxed neo cassette, and an A to G transition resulting in the amino acid substitution of Y for C at position 394 (Y394C) in exon 10. This mutation is analogous to the Y375C substitution in humans. The neo cassette was removed via cre-mediated recombination. (J:190491)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Single point
--
1
19
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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