Phenotypes associated with this allele

• Allele Symbol: Fa2h^tm1Hama
• Allele Name: targeted mutation 1, Hiroko Hama
• Allele ID: MGI:4430576
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Fa2h^tm1Hama/Fa2h^tm1Hama Cnp^tm1(cre)Kan/Cnp^+	involves: 129 * C57BL/6	MGI:4999602

Genotype
MGI:4999602

cn1

• Allelic Composition: Fa2h^tm1Hama/Fa2h^tm1Hama; Cnp^tm1(cre)Kan/Cnp⁺
• Genetic Background: involves: 129 * C57BL/6

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

nervous system

abnormal cerebellum morphology ( J:171655 )

• histological abnormalities are similar to those in germline null mice

• decrease in myelin lipid levels in the cerebellum compared to controls at 12 months of age but not at 6 months of age

abnormal Purkinje cell morphology ( J:171655 )

• while the overall number of Purkinje cells is similar to controls, regions with smaller sized or absent Purkinje neurons relative to controls are seen

decreased Purkinje cell size ( J:171655 )

homeostasis/metabolism

abnormal lipid level ( J:171655 )

• decrease in myelin lipid levels in the cerebellum compared to controls at 12 months of age but not at 6 months of age

abnormal galactolipid level ( J:171655 )

• hFA-GalCer galactolipids are absent from the brain at 10 weeks of age

• total loss of brain hFA-galactolipids at 3 months of age

behavior/neurological

behavior/neurological phenotype ( J:171655 )

N • unlike germline null mice, no defects in learning are detected using a water T maze or a morris water maze

impaired coordination ( J:171655 )

• at 12 months of age

decreased vertical activity ( J:171655 )

• at 12 months of age

• reduction in vertical activity is more severe than that in horizontal activity

decreased locomotor activity ( J:171655 )

• decrease in spontaneous activity at 12 months of age