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Human Disease and Mouse Model Detail
Human Disease

Term: Hypophosphatemic Rickets, X-Linked Dominant; XLHR
OMIM ID: 307800

Synonyms HYP; Hypophosphatemia, X-Linked; XLH; Hypophosphatemic Vitamin D-Resistant Rickets; HPDR; Vitamin D-Resistant Rickets, X-Linked
Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene
Human Gene
 
Characteristics of this human disease are associated with mutations in...
Phex PHEX
  mousehuman...both mouse and human orthologous genes.
     
Fgf23 FGF23
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Transgenes and
other mutation types
Gy   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(APOE-FGF23*R176Q)#Ack

Mouse Models
Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Fgf23tm1Blan/Fgf23+
PhexHyp/Y		   Not Specified J:94041
Fgf23tm1Sliu/Fgf23tm1Sliu
PhexHyp/Y		   involves: 129S/SvEv * C57BL/6 J:110579
Fgf23tm1Sliu/Fgf23+
PhexHyp/Y		   involves: 129S/SvEv * C57BL/6 J:110579
PhexHyp-2J/Y   C57BL/6J J:88352
PhexHyp-2J/Phex+   C57BL/6J J:88352
PhexHyp-Duk/Y   involves: BALB/cAnBomUrd J:88352
PhexHyp-Duk/Phex+   involves: BALB/cAnBomUrd J:88352
PhexHyp/Y   C57BL/6J J:67356, J:88352
PhexHyp/Phex+   C57BL/6J J:88352
PhexHyp/Y   B6.Cg-PhexHyp/J J:38621
PhexHyp/?   involves: C57BL/6J J:99866
PhexMhdabap012/PhexMhdabap012   C3HeB/FeJ-PhexMhdabap012 J:183993
PhexMhdabap024/PhexMhdabap024   C3HeB/FeJ-PhexMhdabap024 J:183993
PhexPug/Y   involves: C57BL/6J J:136463
PhexSka1/Y   C57BL/6-PhexSka1 J:79953
PhexSka1/Phex+   C57BL/6-PhexSka1 J:79953
Models involving transgenes or other mutation types.2
Gy/Y   involves: C3H/Sn * C57BL/6Ei J:38621, J:88352
Tg(APOE-FGF23*R176Q)#Ack/0   involves: C57BL/6J * CBA J:93981

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Models involving transgenes or other mutation types may also appear in other sections of the table.
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory