- decreased circulating alkaline phosphatase level / MGI
C3HeB/FeJ-AlplMhdabap020/Ieg
Status | Available to order |
EMMA ID | EM:02550 |
International strain name | C3HeB/FeJ-AlplMhdabap020/Ieg |
Alternative name | BAP020 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | AlplMhdabap020, |
Gene/Transgene symbol | Alpl |
Information from provider
Provider | Martin Hrabe de Angelis |
Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
Genetic information | Nucleotide substitution from A to T at position 1098, exon 10 of Alpl gene, resulting in a silent mutation (Thr 365 Thr). |
Phenotypic information | Alkaline phosphatase low. |
Breeding history | More than 2 times backcrossed to C3HeB/FeJ. |
References |
|
Homozygous fertile | not known |
Homozygous viable | not known |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Animals used for archiving | heterozygous C3H |
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
- Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192
- Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017
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