infantile hypophosphatasia Disease Ontology Browser

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Disease Ontology Browser

infantile hypophosphatasia (DOID:0110914)
Alliance: disease page
Synonyms: Hops; phosphoethanolaminuria
Alt IDs: OMIM:241500, ORDO:247651
Definition: A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36.

Disease References using Mouse Models (6)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23

Allelic Composition	Genetic Background	Reference	Phenotypes
Alpltm1Sor/Alpltm1Sor	either: (involves: 129S7/SvEvBrd-Alpl^tm1Sor) or (involves: 129S7/SvEvBrd * C57BL/6)	J:28394	View
Alpltm1Jlm/Alpltm1Jlm	either: (involves: 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6J)	J:39015	View
Alpltm1Jlm/Alpltm1Jlm	involves: 129S1/SvImJ * 129S2/SvPas * C57BL/6	J:233260	View