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Phenotypes Associated with This Genotype
Genotype
MGI:2655540
Allelic
Composition
Arsbtm1Cptr/Arsbtm1Cptr
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arsbtm1Cptr mutation (0 available); any Arsb mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Skeletal abnormalities of the Arsbtm1Cptr/Arsbtm1Cptr mouse

craniofacial
• biparietal diameter of the skull is enlarged starting around 4 weeks of age (J:34831)
• biparietal diameter of the skull is enlarged starting around 4 weeks of age (J:34831)
• animals develop a short snout after 4 weeks of age (J:34831)
• animals develop a short snout after 4 weeks of age (J:34831)
• broadened head becomes obvious around 4 weeks of age (J:34831)
• broadened head becomes obvious around 4 weeks of age (J:34831)

growth/size/body
• animals develop a short snout after 4 weeks of age (J:34831)
• animals develop a short snout after 4 weeks of age (J:34831)
• broadened head becomes obvious around 4 weeks of age (J:34831)
• broadened head becomes obvious around 4 weeks of age (J:34831)
• 15% reduction in body weight at 9-12 months of age (J:34831)
• 15% reduction in body weight at 9-12 months of age (J:34831)

homeostasis/metabolism
• elevated glycosaminoglycans in the urine (J:34831)
• elevated glycosaminoglycans in the urine (J:34831)

limbs/digits/tail
• animals develop rough, broadened paws after 4 weeks of age (J:34831)
• animals develop rough, broadened paws after 4 weeks of age (J:34831)
• animals develop shortened limbs after 4 weeks of age (J:34831)
• animals develop shortened limbs after 4 weeks of age (J:34831)

renal/urinary system
• elevated glycosaminoglycans in the urine (J:34831)
• elevated glycosaminoglycans in the urine (J:34831)

skeleton
• biparietal diameter of the skull is enlarged starting around 4 weeks of age (J:34831)
• biparietal diameter of the skull is enlarged starting around 4 weeks of age (J:34831)
• long bones are shortened and broadened (J:34831)
• long bones are shortened and broadened (J:34831)
• pelvic abnormality (J:34831)
• pelvic abnormality (J:34831)
• ribs exhibit thickening and wavy, irregular surfaces (J:34831)
• ribs exhibit thickening and wavy, irregular surfaces (J:34831)
• irregular structure, thickened cartilage (J:34831)
• cartilaginous anlagen of vertebrae as well as skull exhibit a perturbed structure and an irregular surface and contain ballooned chondroctyes (J:34831)
• irregular structure, thickened cartilage (J:34831)
• cartilaginous anlagen of vertebrae as well as skull exhibit a perturbed structure and an irregular surface and contain ballooned chondroctyes (J:34831)
• at 4 weeks of age, tracheal cartilages are thickened and exhbiit an irregular structure with ballooned, vacuolated chondrocytes (J:34831)
• at 4 weeks of age, tracheal cartilages are thickened and exhbiit an irregular structure with ballooned, vacuolated chondrocytes (J:34831)
• 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 (J:34831)
• 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 (J:34831)
• 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 (J:34831)
• 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 (J:34831)
• at 4 weeks of age, articular cartilages are thickened and exhibit an irregular structure with ballooned, vacuolated chondroctyes (J:34831)
• at 4 weeks of age, articular cartilages are thickened and exhibit an irregular structure with ballooned, vacuolated chondroctyes (J:34831)

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 (J:34831)
• 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 (J:34831)

respiratory system
• at 4 weeks of age, tracheal cartilages are thickened and exhbiit an irregular structure with ballooned, vacuolated chondrocytes (J:34831)
• at 4 weeks of age, tracheal cartilages are thickened and exhbiit an irregular structure with ballooned, vacuolated chondrocytes (J:34831)

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 (J:34831)
• 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 (J:34831)

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


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
02/02/2016
MGI 6.02
The Jackson Laboratory