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Phenotypes Associated with This Genotype
Genotype
MGI:5425315
Allelic
Composition
Smarcal1tm1.1Cfbo/Smarcal1tm1.1Cfbo
Genetic
Background
either: B6.129-Smarcal1tm1.1Cfbo or (involves: 129 * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarcal1tm1.1Cfbo mutation (0 available); any Smarcal1 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all die within 6 hours of being housed at 39.5 degrees C, whereas only 20% of wild-type controls died in 10 h under the same conditions

immune system

homeostasis/metabolism
• in mice treated with 0.1 mg/kg/day alpha-amanitin
• mice treated with 0.1 mg/kg/day alpha-amanitin develop features similar to Schimke Type Immunoosseous Dysplasia (OMIM 242900)

growth/size/body
• display weight growth restriction when treated with 0.1 mg/kg/day alpha-amanitin
• display length growth restriction when treated with 0.1 mg/kg/day alpha-amanitin
• display length and weight growth restriction when treated with 0.1 mg/kg/day alpha-amanitin
• in the absence of treatment growth is similar to wild-type mice

skeleton
• distal femur plates are hypocellular in mice treated with 0.1 mg/kg/day alpha-amanitin
• chrondrocytes form less organized columns in mice treated with 0.1 mg/kg/day alpha-amanitin
• chrondrocytes form less organized columns in mice treated with 0.1 mg/kg/day alpha-amanitin
• disproportionately short spine in mice treated with 0.1 mg/kg/day alpha-amanitin

renal/urinary system
• in mice treated with 0.1 mg/kg/day alpha-amanitin

cellular
• when treated with 1 ug/ml alpha-amanitin MEFs proliferate more slowly compared to wild-type cells

hematopoietic system

Mouse Models of Human Disease
OMIM ID Ref(s)
Schimke Immunoosseous Dysplasia; SIOD 242900 J:183899


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory