A 2.2 kb region of the gene containing exon 2 was deleted and replaced with a PGK-neo cassette via homologous recombination resulting in deletion of half of the extracellular ligand-binding domain. The targeted mutation removes 3 of 7 conserved cysteine residues required to maintain the conformation of the extracellular domain, as well as 2 of 5 hydrophobic domains. RT-PCR analysis of RNA from homozygous mutant animals confirmed the presence of stable mutant transcript. Sequence analysis of the RT-PCR products confirmed that exon 2 was deleted and that exons 1 and 3 were in-frame. (J:80024)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
Insertion, Intragenic deletion
--
1
9
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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