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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