Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair

Table 3 Novel high-confidence coding SNVs identified in the F₀ repaired Cdh23 ^ahl/753A>G genome

Chr	Position	B6J Ref	F₀ SNV	Functional annotation	Gene	AA position	Reference AA	Alternative AA	Validated
2	130591861	C	T	missense_variant	Ubox5	522	C	Y	Present^a
5	45582909	G	A	missense_variant	Fam184b	312	R	W	Present
8	35482596	C	T	missense_variant	Eri1	136	E	K	Not present
8	35482601	G	A	missense_variant	Eri1	134	T	I	Not present
8	35482602	T	G	missense_variant	Eri1	134	T	P	Not present
10	60530975	C	G	missense_variant	Cdh23	242	S	T	Present^b
10	60530976	T	A	missense_variant	Cdh23	242	S	C	Present^b
11	69826746	A	C	splice_region_variant	Nlgn2	544	T	T	Not present
17	23310616	G	T	missense_variant	Vmn2r114	171	P	T	UD

Chr chromosome, B6J Ref C57BL/6J reference genome sequence, F ₀ SNV founder-identified single nucleotide variant, AA amino acid, UD undetermined due to the repetitive nature of the sequence encompassing the SNV
^aPresent in the WT C57BL/6NTac strain
^bThese two nucleotide changes were specifically introduced as part of correction design 1, and when both are present led to a synonymous change (p.S242S)

ISSN: 1756-994X