MGI phenotypes (allele matching)
- decreased circulating alkaline phosphatase level / MGI
C3HeB/FeJ-AlplMhdabap32/Ieg
| Status | Available to order |
| EMMA ID | EM:05251 |
| International strain name | C3HeB/FeJ-AlplMhdabap32/Ieg |
| Alternative name | BAP032 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | AlplMhdabap32 |
| Gene/Transgene symbol | Alpl |
Information from provider
| Provider | Sibylle Wagner |
| Provider affiliation | Institute of Experimental Genetics, GSF Research Centre |
| Genetic information | Missense mutation at exon 11 of Alpl gene, nucleotide 1217 A to G, resulting in aminoacid substitution Asp 406 Gly. |
| Phenotypic information | Reduced total alkaline phosphatase activity. |
| Breeding history | C3HeB/FeJ inbred more than 5 generations. |
| References | None available |
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Infantile hypophosphatasia / Orphanet_247651
- Odontohypophosphatasia / Orphanet_247685
- Adult hypophosphatasia / Orphanet_247676
- Childhood-onset hypophosphatasia / Orphanet_247667
- Perinatal lethal hypophosphatasia / Orphanet_247623
- Prenatal benign hypophosphatasia / Orphanet_247638
MGI phenotypes (gene matching)
- fragile skeleton / MGI
- decreased bone mineral density / MGI
- abnormal parietal bone morphology / MGI
- abnormal tooth development / MGI
- abnormal long bone metaphysis morphology / MGI
- decreased leukocyte cell number / MGI
- abnormal small intestine morphology / MGI
- abnormal spleen morphology / MGI
- small spleen / MGI
- weakness / MGI
- abnormal spinal nerve morphology / MGI
- lung hemorrhage / MGI
- decreased body size / MGI
- impaired coordination / MGI
- internal hemorrhage / MGI
- abnormal digestion / MGI
- intracranial hemorrhage / MGI
- apnea / MGI
- seizures / MGI
- abnormal tooth morphology / MGI
- abnormal muscle morphology / MGI
- abnormal thymus cortex morphology / MGI
- decreased circulating alkaline phosphatase level / MGI
- abnormal cementum morphology / MGI
- abnormal alveolar process morphology / MGI
- abnormal osteoblast morphology / MGI
- increased bone resorption / MGI
- abnormal osteoblast physiology / MGI
- cachexia / MGI
- decreased long bone epiphyseal plate size / MGI
- pale spleen / MGI
- decreased trabecular bone thickness / MGI
- abnormal blood homeostasis / MGI
- decreased total body fat amount / MGI
- increased bone trabecula number / MGI
- postnatal lethality, complete penetrance / MGI
- abnormal tooth root development / MGI
- decreased alkaline phosphatase activity / MGI
- abnormal dental pulp morphology / MGI
- decreased bone mineralization / MGI
- delayed bone mineralization / MGI
- thin parietal bone / MGI
- abnormal dentin mineralization / MGI
- abnormal cementum mineralization / MGI
- abnormal odontoblast morphology / MGI
- abnormal tooth root morphology / MGI
- short tooth root / MGI
- abnormal acellular cementum morphology / MGI
- abnormal cellular cementum morphology / MGI