This TALEN-mediated mutation has a 285 bp deletion that includes 272 bp of exon 9 and 13 bp of intron 9, with cDNA sequencing showing the absence of 397 bp from the 3-prime end of exon 9 from the transcript. This is predicted to cause a 132 amino acid deletion then a frameshift resulting in 157 amino acid substitutions with 12 extra amino acids due to late termination. (J:265859)
Basic Information
B6.Cg-Crb1rd8 Jak3m1J/BocJ
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count