CRISPR/cas9 mediated recombination created a 12,068 bp deletion spanning from exon 1 to exon 4. This deletion removes amino acids 122-542 of the long isoform (variant 1) and amino acids 122-289 of the short isoform (variant 2). Western blot analysis confirmed the absence of expression in homozygous mice. (J:266136)
Basic Information
(C57BL/6NJcl x DBA/2NJcl)F2
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count