Phenotypes Associated with This Genotype

Genotype
MGI:3707526

• Allelic Composition: Edaradd^cr/Edaradd^cr
• Genetic Background: B6C3Fe a/a-Edaradd^cr/J

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

Edaradd^cr/Edaradd^cr (back) with Edaradd^cr/⁺ (front).

behavior/neurological

abnormal locomotor coordination ( J:5870 )

• mutants twirl in the air when picked up by their tails; variable penetrance

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:29151 )

N • no aberrant bleeding time after tail vein nick

abnormal lipid level ( J:5870 )

• sulfatides are increased in P21 mutant brains, however levels are normal at 17 months of age

• at 17 months of age, cerebroside levels are higher and cholesterol esters are found in brains

nervous system

abnormal brain morphology ( J:5870 )

• 33% have grossly malformed brains at P21

• brains contain increased levels of sulfatides at P21 but not at older ages and increased cerebroside and cholesterl ester levels in older mice

abnormal cerebellum morphology ( J:5870 )

• abnormalities of the cerebellum include abnormal shape and cavitation

abnormal cerebellar layer morphology ( J:5870 )

• all layers of the cerebellar cortex are disorganized

Purkinje cell degeneration ( J:5870 )

• two mutants show pyknosis and loss of some Purkinje cells

abnormal cerebellum fissure morphology ( J:5870 )

• many mutants exhibit an abnormal lateral fissure parallel to the median cerebral fissure

small cerebellum ( J:5870 )

demyelination ( J:5870 )

• in myelinated areas, especially in the cerebellum, holes are present which seem to be the result of swollen myelin sheaths and the disarranged myelin appears in patches, not diffusely

• presence of cholesterol esters in the brain indicates demyelination

reproductive system

reduced fertility ( J:5870 )

respiratory system

abnormal respiratory mucosa morphology ( J:119848 )

• at P7 and P14, mice lack submucosal glands