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Phenotypes Associated with This Genotype
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acp2nax mutation (0 available); any Acp2 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

• 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

• 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 ID Ref(s)
Gomez-Lopez-Hernandez Syndrome; GLHS 601853 J:95958

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory