- 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 |
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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 (allele matching)
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
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