This hypomorphic allele was generated by nucleotide substitution in exon 2 that results in the amino acid substitution of alanine for serine at positions 2, 4, 7, 12 and 13(S2A/S4A/S7A/S12A/S13A). Cre-mediated recombination removed the floxed neo cassette inserted upstream of the translation start site in exon 2. (J:180517)
Basic Information
Insertion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count