CRISPR-Cas9 methods were used to delete the second exon of the gene. This is predicted to be a strong loss of function as exon 2 deletion introduces a frame shift that creates a premature stop codon in exon 3. Immunofluorescence analysis of femur sections suggested a complete loss of protein from homozygous mutant mice. (J:239391)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Endonuclease-mediated
Intragenic deletion
--
1
--
3

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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