A genomic fragment containing part of exon 3 and exons 4-6 was replaced by a neomycin resistance cassette. Northern blot analysis of total RNA derived from limb and cartilages demonstrated an absence of transcript in homozygous mice. Immunohistochemistry and Western blot analyses confirmed the lack of the protein in the cartilage of homozygous mice. (J:67300)

Basic Information

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