A cDNA encoding the open reading frame with an A to T transversion at position 2958 that resulted in an amino acid substitution of phenylalanine for tyrosine at position 816 (Y816F) was inserted into the coding exon. A floxed neo cassette was also inserted downstream of the cDNA but was removed by subsequent germ-line, cre-mediated recombination. The amino acid substitution occures within the PLCgamma site. (J:130626)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count