Phenotypes Associated with This Genotype

Genotype
MGI:3574844

• Allelic Composition: Acp2^nax/Acp2^nax
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

behavior/neurological

tremors ( J:95958 )

ataxia ( J:95958 )

growth/size/body

decreased body weight ( J:95958 )

• 50% reduction in weight of homozygous adults compared to wildtype

decreased body height ( J:95958 )

postnatal growth retardation ( J:95958 )

• severe growth retardation during development

nervous system

abnormal CNS glial cell morphology ( J:95958 )

• Bergmann glia cell radial extension into the molecular layer is misaligned

abnormal cerebellum morphology ( J:95958 )

• cerebellum cytoarchitecture is disrupted

• cerebellum contains lysosomal storage bodies in nucleated cells that are not observed in wildtype

thin external granule cell layer ( J:95958 )

• the external granule cell layer contains fewer cells than in wildtype at P0

abnormal cerebellar Purkinje cell layer ( J:95958 )

• P0 homozygotes have a Purkinje cell layer that is dispersed into a multicellular layer

abnormal Purkinje cell dendrite morphology ( J:95958 )

• Purkinje cells do not develop highly organized dendritic trees, but rather extend their dendrites in an uncoordinated fashion, appearing shorter and disoriented

ectopic Purkinje cell ( J:95958 )

• Purkinje cells soma are ectopically placed

absent cerebellar granule layer ( J:95958 )

abnormal cerebellar molecular layer ( J:95958 )

• Bergmann glia cell radial extension into the molecular layer is misaligned

small cerebellum ( J:95958 )

integument

alopecia ( J:95958 )

• posterior part of homozygous mutants remains naked throughout adult development

delayed hair appearance ( J:95958 )

thin hair shaft ( J:95958 )

• hair follicles from the shoulder skin contained thin, but almost normally structured hair shafts, however, hair follicles from the lumbar skin contained extremely thin and short hair shafts

abnormal hair follicle morphology ( J:95958 )

abnormal dermal layer morphology ( J:95958 )

• eosinophilic inclusion bodies, which seemed to belong to hair follicles, were often noted within the corium of the lumbar skin region

abnormal epidermis stratum basale morphology ( J:95958 )

• the stratum germinativum of the interfollicular epidermis was slightly thickened in the lumbar skin region

cellular

abnormal CNS glial cell morphology ( J:95958 )

• Bergmann glia cell radial extension into the molecular layer is misaligned