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)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count