Table 2.

Genotypic and phenotypic summaries of XLH animal models

Name	Mutation size and type	Exon(s) affected	Phex-specific	Serum FGF23	Serum phosphate	Osteomalacia/ rickets/short stature	Craniofacial abnormalities	Hearing loss	References
Gy	Deletion (160-190 kb)	UTR+1-3	N	↑	↓	Y	N	Y	[73]
Hyp	Deletion (58 kb)	15-22+UTR	N	↑	↓	Y	Y	N	[71]
Hyp-Duk	Deletion (30 kb)	13-14	Y	↑	↓	Y	Y	Y	[62]
Hyp-2J	Deletion (7.3 kb)	15	Y	↑	↓	Y	Y	N	[62]
Ska1	Point mutation (1 bp)	8	Y	↑	↓	Y	?	?	[75]
Jrt	Point mutation (1 bp)	14	Y	↑	↓	Y	?	?	[76]

The size and type of mutations, the exons affected and whether or not the mutations are restricted to the Phex coding region are presented alongside the phenotypic profile of the mice. Y, yes/present; N, no/absent; ?, not reported; UTR, untranslated region