MGI phenotypes (allele matching)
- decreased circulating alkaline phosphatase level / MGI
C3H;C-AlplHpp/H
| Status | Available to order |
| EMMA ID | EM:00097 |
| International strain name | C3H;C-AlplHpp/H |
| Alternative name | GENA328 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | AlplHpp |
| Gene/Transgene symbol | Alpl |
Information from provider
| Provider | Tertius Hough |
| Provider affiliation | MRC Mammalian Genetics Unit |
| Phenotypic information | Mice with this mutation have low plasma alkaline phosphatase. |
| References |
|
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
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
Literature references
- A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse.;Nolan P M, Peters J, Strivens M, Rogers D, Hagan J, Spurr N, Gray I C, Vizor L, Brooker D, Whitehill E, Washbourne R, Hough T, Greenaway S, Hewitt M, Liu X, McCormack S, Pickford K, Selley R, Wells C, Tymowska-Lalanne Z, Roby P, Glenister P, Thornton C, Thaung C, Stevenson J A, Arkell R, Mburu P, Hardisty R, Kiernan A, Erven A, Steel K P, Voegeling S, Guenet J L, Nickols C, Sadri R, Nasse M, Isaacs A, Davies K, Browne M, Fisher E M, Martin J, Rastan S, Brown S D, Hunter J, ;2000;Nature genetics;25;440-3; 10932191
- Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2.;Hough Tertius A, Polewski Monika, Johnson Kristen, Cheeseman Michael, Nolan Patrick M, Vizor Lucie, Rastan Sohaila, Boyde Alan, Pritzker Kenneth, Hunter A Jackie, Fisher Elizabeth M C, Terkeltaub Robert, Brown Steve D M, ;2007;Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research;22;1397-407; 17539739