An 8 bp deletion was generated by CRISPR/Cas9 technology, producing a premature stop codon at the end of exon 1 that significantly truncates the encoded protein. The deletion was confirmed by immunofluorescence staining in brain ependymal cilia and tracheal cilia from homozygous mutant mice. (J:294184)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count