Phenotypes associated with this allele

• Allele Symbol: Galns^{tm2(GALNS)Toma}
• Allele Name: targeted mutation 2, Sunji Tomatsu
• Allele ID: MGI:3612971
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Galns^tm2(GALNS)Toma/Galns^tm2(GALNS)Toma	involves: 129X1/SvJ * C57BL/6	MGI:3616632
hm2	Galns^tm2(GALNS)Toma/Galns^tm2(GALNS)Toma	involves: 129X1/SvJ * C57BL/6J	MGI:3715449

Genotype
MGI:3616632

hm1

• Allelic Composition: Galns^{tm2(GALNS)Toma}/Galns^{tm2(GALNS)Toma}
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

cellular

lysosomal protein accumulation ( J:104126 )

• lysosomal storage is seen in many tissues and cell types including the liver, heart, brain, kidney, spleen, sinus lining cells of the bone marrow, osteoblasts, osteocytes, chondrocytes, connective tissue in the periosteum, periarticular connective tissue, ligaments associated with the femur, and cornea

• lysosomal storage is increased in severity and is seen in more tissues than in homozygous Galns null mice

skeleton

abnormal cartilage morphology ( J:104126 )

• the cartilage layer is shorter than in wild-type mice

abnormal long bone epiphyseal plate morphology ( J:104126 )

• lysosomal storage and mild disarrangement of corneal epithelial basal cells is seen; however mice do not develop the fine corneal clouding that is seen in human patients

• some cells surrounding the growth plate appear hypertrophic and abnormally round

• at 2 - 5 months of age, increased collagen X expression is seen in the growth plate

abnormal long bone epiphyseal plate proliferative zone ( J:104126 )

• the proliferative layer is shorter than in wild-type mice

increased width of hypertrophic chondrocyte zone ( J:104126 )

• the hypertrophic zone is thicker and cells are not arranged in columns

vision/eye

abnormal cornea morphology ( J:104126 )

• lysosomal storage and mild disarrangement of corneal epithelial basal cells is seen; however mice do not develop the fine corneal clouding that is seen in human patients

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mucopolysaccharidosis IV		DOID:12804		J:104126

Genotype
MGI:3715449

hm2

• Allelic Composition: Galns^{tm2(GALNS)Toma}/Galns^{tm2(GALNS)Toma}
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

cellular

lysosomal protein accumulation ( J:122458 )

• lysosomal storage is present in the liver, brain, Kupffer, glomerular visceral epithelial cells and spleen sinus-lining

• heart valve stroma cells are occasionally distended by lysosomal storage

• lysosomal storage in neocortical neurons is pronounced