Mouse Genome Informatics
hm
    Acp2nax/Acp2nax
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological

growth/size
• 50% reduction in weight of homozygous adults compared to wildtype
• severe growth retardation during development

nervous system
• cerebellum cytoarchitecture is disrupted
• cerebellum contains lysosomal storage bodies in nucleated cells that are not observed in wildtype
• the external granule cell layer contains fewer cells than in wildtype at P0
• P0 homozygotes have a Purkinje cell layer that is dispersed into a multicellular layer
• Purkinje cells do not develop highly organized dendritic trees, but rather extend their dendrites in an uncoordinated fashion, appearing shorter and disoriented
• Purkinje cells soma are ectopically placed
• Bergmann glia cell radial extension into the molecular layer is misaligned
• Bergmann glia cell radial extension into the molecular layer is misaligned

integument
• posterior part of homozygous mutants remains naked throughout adult development
• 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
• eosinophilic inclusion bodies, which seemed to belong to hair follicles, were often noted within the corium of the lumbar skin region
• the stratum germinativum of the interfollicular epidermis was slightly thickened in the lumbar skin region

Mouse Models of Human Disease
OMIM IDRef(s)
Cerebellotrigeminal Dermal Dysplasia 601853 J:95958