MGI phenotypes (allele matching)
- 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 (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
- 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