Mouse Genome Informatics
hm
    Arsbtm1Cptr/Arsbtm1Cptr
involves: 129P2/OlaHsd * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Skeletal abnormalities of the Arsbtm1Cptr/Arsbtm1Cptr mouse

craniofacial
• biparietal diameter of the skull is enlarged starting around 4 weeks of age
• animals develop a short snout after 4 weeks of age
• broadened head becomes obvious around 4 weeks of age

growth/size/body
• animals develop a short snout after 4 weeks of age
• broadened head becomes obvious around 4 weeks of age
• 15% reduction in body weight at 9-12 months of age

homeostasis/metabolism
• elevated glycosaminoglycans in the urine

limbs/digits/tail
• animals develop rough, broadened paws after 4 weeks of age
• animals develop shortened limbs after 4 weeks of age

renal/urinary system
• elevated glycosaminoglycans in the urine

skeleton
• biparietal diameter of the skull is enlarged starting around 4 weeks of age
• long bones are shortened and broadened
• ribs exhibit thickening and wavy, irregular surfaces
• irregular structure, thickened cartilage
• cartilaginous anlagen of vertebrae as well as skull exhibit a perturbed structure and an irregular surface and contain ballooned chondroctyes
• at 4 weeks of age, tracheal cartilages are thickened and exhbiit an irregular structure with ballooned, vacuolated chondrocytes
• growth plates of long bones are highly broadened at 4 weeks of age, the columnar arrangement of chondrocytes is lost, and ballooned and vaculolated chondrocytes are found not only in the opening zone as in wild-type but also across the longitudinal extension of growth plates
• growth plates of long bones are highly broadened at 4 weeks of age, the columnar arrangement of chondrocytes is lost, and ballooned and vaculolated chondrocytes are found not only in the opening zone as in wild-type but also across the longitudinal extension of growth plates
• at 4 weeks of age, articular cartilages are thickened and exhibit an irregular structure with ballooned, vacuolated chondroctyes

hematopoietic system
• in blood smears, coarse granular inclusion bodies similar to Alder-Reilly bodies in human MPS VI are seen in almost all polymorphonuclear leukocytes and in about 50% of lymphocytes

respiratory system
• at 4 weeks of age, tracheal cartilages are thickened and exhbiit an irregular structure with ballooned, vacuolated chondrocytes

cellular
• storage of glycosaminoglycans is observed in the liver, lung, kidney, blood vessels, spleen, trachea, esophagus, stomach, small and large intestine, pancreas, salivary gland, testis, skin, adrenal gland, and lymph nodes

Mouse Models of Human Disease
OMIM IDRef(s)
Mucopolysaccharidosis Type VI; MPS6 253200 J:34831