Phenotypes Associated with This Genotype

Genotype
MGI:3713764

• Allelic Composition: Sumf1^{Gt(RST760)Byg}/Sumf1^{Gt(RST760)Byg}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Appearance of Sumf1^{Gt(RST760)Byg}/Sumf1^{Gt(RST760)Byg} mice

mortality/aging

premature death ( J:120146 )

• only 10% reach 3 months of age; homozygotes with lower weights live significantly less time than homozygous mice with higher body weights

postnatal lethality, incomplete penetrance ( J:120146 )

• mice display frequent mortality in the first weeks of life

growth/size/body

decreased body size ( J:120146 )

• at 40 days of age, mutants are several times smaller than wild-type

postnatal growth retardation ( J:120146 )

• growth retardation is evident early in life

behavior/neurological

limb grasping ( J:120146 )

• hindlimb clasping is detected starting at 1 month of age

tremors ( J:120146 )

• head tremors are detected starting at 1 month of age

seizures ( J:120146 )

nervous system

seizures ( J:120146 )

increased neuron apoptosis ( J:120146 )

• apoptosis in cortex is observed starting at 1 month of age, and increasing significantly at 3 months when it becomes massive and generalized

abnormal microglial cell morphology ( J:120146 )

• activated microglia are detected in cerebellum at 1 month of age; macrophages are detected in Purkinje cell layer

CNS inflammation ( J:120146 )

• starting a 1 month of age, high levels of inflammation are seen throughout entire CNS

abnormal cerebellar cortex morphology ( J:120146 )

• in cortex, macrophages completely encircling neurons are observed

decreased Purkinje cell number ( J:120146 )

• significant and progressive loss of Purkinje cells is detected, starting at ~1 month of age

abnormal astrocyte morphology ( J:120146 )

• 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

abnormal craniofacial morphology ( J:120146 )

• homozygous mice have flat facial profiles

decreased cranium height ( J:120146 )

• at P30, skull is noticeably shorter than wild-type

skeleton

decreased cranium height ( J:120146 )

• at P30, skull is noticeably shorter than wild-type

abnormal long bone epiphysis morphology ( J:120146 )

• distal tibia shows enlarged epiphysis

abnormal long bone metaphysis morphology ( J:120146 )

• distal tibia shows enlarged metaphysis

decreased length of long bones ( J:120146 )

abnormal thoracic vertebrae morphology ( J:120146 )

• spinal process of dorsal vertebrae is lost, starting at 2 weeks of age

kyphosis ( J:120146 )

• at ~2 weeks of age, severe kyphosis is displayed

abnormal joint morphology ( J:120146 )

• joint deformities are evident starting at 2 weeks of age

limbs/digits/tail

short limbs ( J:120146 )

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

liver/biliary system

increased hepatocyte apoptosis ( J:120146 )

• 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

abnormal macrophage morphology ( J:120146 )

• macrophages are sites of storage of glycosaminoglycans (GAGs) which are found at high levels in all tissues examined

increased macrophage cell number ( J:120146 )

• there is significant increase in macrophage numbers in all tissues examined

abnormal microglial cell morphology ( J:120146 )

• activated microglia are detected in cerebellum at 1 month of age; macrophages are detected in Purkinje cell layer

immune system

abnormal macrophage morphology ( J:120146 )

• macrophages are sites of storage of glycosaminoglycans (GAGs) which are found at high levels in all tissues examined

increased macrophage cell number ( J:120146 )

• there is significant increase in macrophage numbers in all tissues examined

abnormal microglial cell morphology ( J:120146 )

• activated microglia are detected in cerebellum at 1 month of age; macrophages are detected in Purkinje cell layer

CNS inflammation ( J:120146 )

• starting a 1 month of age, high levels of inflammation are seen throughout entire CNS

cellular

increased neuron apoptosis ( J:120146 )

• apoptosis in cortex is observed starting at 1 month of age, and increasing significantly at 3 months when it becomes massive and generalized

increased hepatocyte apoptosis ( J:120146 )

• 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		DO ID	OMIM ID(s)	Ref(s)
mucosulfatidosis		DOID:0050441	OMIM:272200	J:120146