Mouse Genome Informatics
hm1
    Sumf1Gt(RST760)Byg/Sumf1Gt(RST760)Byg
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Appearance of Sumf1Gt(RST760)Byg/Sumf1Gt(RST760)Byg mice

mortality/aging
• mice display frequent mortality in the first weeks of life
• only 10% reach 3 months of age; homozygotes with lower weights live significantly less time than homozygous mice with higher body weights

growth/size/body
• at 40 days of age, mutants are several times smaller than wild-type
• growth retardation is evident early in life

behavior/neurological
• hindlimb clasping is detected starting at 1 month of age
• head tremors are detected starting at 1 month of age

nervous system
• apoptosis in cortex is observed starting at 1 month of age, and increasing significantly at 3 months when it becomes massive and generalized
• activated microglia are detected in cerebellum at 1 month of age; macrophages are detected in Purkinje cell layer
• starting a 1 month of age, high levels of inflammation are seen throughout entire CNS
• in cortex, macrophages completely encircling neurons are observed
• significant and progressive loss of Purkinje cells is detected, starting at ~1 month of age
• protoplasmic astrocytes in cerebellum have enlarged vacuoles in cytoplasm, surrounding Purkinje cells
• there are numerous slightly electron dense granules, often containing membrane remnants, filling cytoplasm of protoplasmic astrocytes, endothelial cells and pericytes surrounding capillaries

craniofacial
• homozygous mice have flat facial profiles
• at P30, skull is noticeably shorter than wild-type

skeleton
• at P30, skull is noticeably shorter than wild-type
• distal tibia shows enlarged epiphysis
• distal tibia shows enlarged metaphysis
• spinal process of dorsal vertebrae is lost, starting at 2 weeks of age
• at ~2 weeks of age, severe kyphosis is displayed
• joint deformities are evident starting at 2 weeks of age

limbs/digits/tail
• mice have short limbs, evident from 2 weeks of age

liver/biliary system
• apoptotic cells in liver sections are observed starting at 1 month of age, and increasing significantly at 3 months when it becomes massive and generalized

hematopoietic system
• macrophages are sites of storage of glycosaminoglycans (GAGs) which are found at high levels in all tissues examined
• there is significant increase in macrophage numbers in all tissues examined
• activated microglia are detected in cerebellum at 1 month of age; macrophages are detected in Purkinje cell layer

immune system
• macrophages are sites of storage of glycosaminoglycans (GAGs) which are found at high levels in all tissues examined
• there is significant increase in macrophage numbers in all tissues examined
• activated microglia are detected in cerebellum at 1 month of age; macrophages are detected in Purkinje cell layer
• starting a 1 month of age, high levels of inflammation are seen throughout entire CNS

cellular
• apoptosis in cortex is observed starting at 1 month of age, and increasing significantly at 3 months when it becomes massive and generalized
• apoptotic cells in liver sections are observed starting at 1 month of age, and increasing significantly at 3 months when it becomes massive and generalized

Mouse Models of Human Disease
OMIM IDRef(s)
Multiple Sulfatase Deficiency; MSD 272200 J:120146