Table 3 Comparison of genotype versus phenotype between seven moderate impact missense variants.

Animal ID	Gender	Phenotype	Genotype IQCB1	CHD3	CNGB1	DTHD1_942	RBP3	USH1C	CDH23	DTHD1_144
247 ^a	F	PRA-affected	delCT/delCT	GG	TT	GG	AA	TT	TT	CC
205 ^a	M	Normal	wt/delCT	AG	CT	GC	AG	CT	CT	CA
208 ^a	F	Normal	wt/delCT	AG	CT	GC	AG	CT	CT	CA
235	M	PRA-affected	delCT/delCT	AA ^b	CC	GG	AG ^b	CT	TT	CC
240	M	Normal	wt/delCT	AA	CT	GG ^b	GG	CT	CT	CA
248	F	Normal	wt/delCT	/	CC	/	AG	TT	CC	/
258	M	Normal	wt/delCT	AA	TT ^b	GC	GG	CC	CC ^b	AA ^b
236	M	Normal	wt/wt	AA	CC	GC	AG	CT	CT ^b	CA ^b
230	M	Normal	wt/wt	AA	CC	CC	GG	CC	CC	AA
234	F	Normal	wt/wt	/	/	CC	GG	/	/	AA
251	F	Normal	wt/wt	AA	CC	CC	GG	CC	CT ^b	AA
229	M	Normal	wt	AA	CC	CC	GG	CT	CC	AA
222	F	Normal	wt	AA	CT	CC	GG	TT ^b	CT ^c	AA
233	F	Normal	wt	AA	CC	CC	GG	TT ^b	CC	CA ^b
223	F	Normal	wt	AA	CC	GC	GG	CT	CC	CA ^c

Gender: male (M), female (F); genotype: deleted 2 base pairs cytosine and thymine (delCT), wild type (wt), IQCB1-mutant (delCT/delCT), IQCB1-carrier (wt/delCT), wild type (wt/wt); nucleotides: guanine (G), adenine (A), thymine (T), cytosine (C); “/” no data due to sample error;
^awhole genome sequenced trio of cats;
^bmissense variants excluded based on genotype versus phenotype mismatch;
^cmissense variants excluded when compared to the pedigree (Fig. 3). The moderate impact variant alleles are detected in unrelated black-footed cats that never interbred with the line of cats with vision loss.

Quick links

Search