Human Disease and Mouse Model Detail

Human Disease

Term: Hypophosphatasia, Adult
OMIM ID: 146300

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...

Alpl

ALPL

...both mouse and human orthologous genes.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Alpl^BAP023/Alpl^BAP023		C3HeB/FeJ-Alpl^BAP023	J:183993
Alpl^BAP026/Alpl^BAP026		C3HeB/FeJ-Alpl^BAP026	J:183993
Alpl^BAP027/Alpl^BAP027		C3HeB/FeJ-Alpl^BAP027	J:183993
Alpl^BAP032/Alpl^BAP032		C3HeB/FeJ-Alpl^BAP032	J:183993
Alpl^Hpp/Alpl⁺		involves: BALB/cAnN * C3H/HeH	J:122319
Alpl^Hpp/Alpl^Hpp		involves: BALB/cAnN * C3H/HeH	J:122319
Alpl^Mhdabap020/Alpl^Mhdabap020		C3HeB/FeJ-Alpl^BAP020	J:183993
Alpl^tm1Sor/Alpl^tm1Sor		either: (involves: 129S7/SvEvBrd-Alpl^tm1Sor) or (involves: 129S7/SvEvBrd * C57BL/6)	J:28394

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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