Phenotypes Associated with This Genotype

Genotype
MGI:5425315

• Allelic Composition: Smarcal1^tm1.1Cfbo/Smarcal1^tm1.1Cfbo
• Genetic Background: either: B6.129-Smarcal1^tm1.1Cfbo or (involves: 129 * C57BL/6)

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:183899 )

• 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

decreased B cell number ( J:183899 )

homeostasis/metabolism

albuminuria ( J:183899 )

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

increased physiological sensitivity to xenobiotic ( J:183899 )

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

growth/size/body

decreased body weight ( J:183899 )

• display weight growth restriction when treated with 0.1 mg/kg/day alpha-amanitin

decreased body length ( J:183899 )

• display length growth restriction when treated with 0.1 mg/kg/day alpha-amanitin

postnatal growth retardation ( J:183899 )

• 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

abnormal long bone epiphyseal plate morphology ( J:183899 )

• distal femur plates are hypocellular in mice treated with 0.1 mg/kg/day alpha-amanitin

abnormal long bone epiphyseal plate proliferative zone ( J:183899 )

• chrondrocytes form less organized columns in mice treated with 0.1 mg/kg/day alpha-amanitin

abnormal long bone hypertrophic chondrocyte zone ( J:183899 )

• chrondrocytes form less organized columns in mice treated with 0.1 mg/kg/day alpha-amanitin

short vertebral column ( J:183899 )

• disproportionately short spine in mice treated with 0.1 mg/kg/day alpha-amanitin

renal/urinary system

albuminuria ( J:183899 )

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

cellular

decreased fibroblast proliferation ( J:183899 )

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

hematopoietic system

decreased B cell number ( J:183899 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Schimke immuno-osseous dysplasia		DOID:0060490	OMIM:242900	J:183899