The allele was generated by site directed mutagenesis that delete 3 bp in exon 13 (TGACGATGAT---AATG). This mutation (D469del) occurs in the TSP3 region of the protein. Cre-mediated recombination removed the floxed selection cassette in intron 16. Western blot analysis confirmed expression of the monomeric protein. (J:206511)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion
--
1
3
5

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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