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Phenotypes Associated with This Genotype
Genotype
MGI:3575650
Allelic
Composition
Slc26a2tm1Aros/Slc26a2tm1Aros
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc26a2tm1Aros mutation (0 available); any Slc26a2 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mortality of mutant mice was approximately 50% from birth to P21
• most mutant mice died before 6 months of age

cellular
• in primary cultures of fibroblasts, chondrocytes, and osteoblasts, sulfate uptake was reduced
• in tissues, amount of non-sulfated disaccharide was higher in cartilage and bone but not in skin
• in primary chondrocyte cultures, BrdU incorporation was reduced

craniofacial
• overgrowth of the mandible relative to the maxilla, resulting in bite overclosure

growth/size/body
• at age P60, approximately 60% reduction in body weight compared to control

limbs/digits/tail
• at birth, bending of the tibia was present

skeleton
• overgrowth of the mandible relative to the maxilla, resulting in bite overclosure
• at birth, bending of the tibia was present
• cell death in the hypertrophic zone as determined by TUNEL assay was reduced
• in the tibial and femoral epiphysis of P1 to P60 mice, chondrocyte size was variable with many smaller cells
• by P60, shortening of long bones and tubular bones were observed
• visible at postnatal day 14
• progressively worsen until P60
• the long bones were osteoporotic
• epiphyseal and metaphyseal trabecular structure were thinner, fewer and poorly connected to each other
• degeneration and fragmentation of articular cartilage of the knee joints and hypertrophy of the synovia
• the formation of the secondary ossification center of the proximal epiphysis from the tibia was delayed

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
diastrophic dysplasia DOID:14687 OMIM:222600
J:97104


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/24/2020
MGI 6.15
The Jackson Laboratory