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Table 2 Genotypic and phenotypic summaries of XLH animal models

From: FGF23 and its role in X-linked hypophosphatemia-related morbidity

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]
  1. 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