This allele comprises a deletion of 32 nucleotides, starting with the second base of phenylalanine codon 238 and ending with the complete threonine codon 248 (chr1:78108913-78108944 (GRCm39)). This deletion removes part of the paired homeodomain of the protein and creates a termination codon immediately downstream of alanine 237 (p.Phe238fs), resulting in a truncated protein that lacks its C-terminal half. The mutation was confirmed by Southern blots and both genomic- and RT-PCR. (J:2944)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count