A knock-in strategy was used to insert an H567K point mutation. Crossing mice with EIIa-cre mice resulted in the removal of a floxed neo downstream of the exon containing the mutation. Southern blot and PCR confirmed recombination. Western blot indicated protein levels similar to that of wild-type. (J:74347)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count