| Human Disease |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A; VDDR1A OMIM ID: 264700 |
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| Synonyms | 1-alpha, 25-Hydroxyvitamin D3 Deficiency, Selective; 1-alpha-Hydroxylase Deficiency; 25-hydroxycholecalciferol-1-Hydroxylase Deficiency; Pddr IA; Pseudovitamin D-Deficiency Rickets, Type IA; PDDR1A; Vitamin D Dependency, Type 1; VDD1; Vitamin D-Dependent Rickets, Type 1a | |||||||||||||||||||||
| View all models | View ALL (2) mouse models for this human disease. | |||||||||||||||||||||
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Genes and mouse models |
Mutations in human and/or mouse homologs are associated with this disease
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| Allelic Composition | Genetic Background | Reference | Phenotypes |
| Cyp27b1tm1Dgo/Cyp27b1tm1Dgo |
involves: 129S1/Sv * 129X1/SvJ * BALB/c | J:70030 | View |
| Cyp27b1tm1Star/Cyp27b1tm1Star |
involves: 129S1/Sv * 129X1/SvJ | J:71928, J:71937, J:78635, J:90983, J:90984 | View |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc |
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last database update 05/08/2013 MGI 5.13 |
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