- decreased circulating alkaline phosphatase level / MGI
C3HeB/FeJ-AlplMhdabap27/Ieg
Status | Available to order |
EMMA ID | EM:05250 |
International strain name | C3HeB/FeJ-AlplMhdabap27/Ieg |
Alternative name | BAP027 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | AlplMhdabap27, |
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 10 of Alpl gene, nucleotide 1184 T to A, resulting in aminoacid substitution Ile 395 Asp. |
Phenotypic information | Reduced total alkaline phosphatase activity. |
Breeding history | C3HeB/FeJ inbred more than 10 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 (allele matching)
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