This allele from project TCP0236 was generated at The Centre for Phenogenomics by injecting Cas9 ribonucleoprotein complex with a single guide RNA having sequence GGATCGGGTCTGTCCCGTTG. The repaired allele had a frame shift deletion of 2 nucleotides, c.C1482- and c.G1483-. This shifts the reading frame at p.N494K and introduces a stop codon at p.Y547*. (J:200814)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count