Phenotypes associated with this allele

• Allele Symbol: Slc26a2^tm1Aros
• Allele Name: targeted mutation 1, Antonio Rossi
• Allele ID: MGI:3574926
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc26a2^tm1Aros/Slc26a2^tm1Aros	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3575650

Genotype
MGI:3575650

hm1

• Allelic Composition: Slc26a2^tm1Aros/Slc26a2^tm1Aros
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

mortality/aging

premature death ( J:97104 )

• mortality of mutant mice was approximately 50% from birth to P21

• most mutant mice died before 6 months of age

cellular

abnormal cell physiology ( J:97104 )

• 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

decreased cell proliferation ( J:97104 )

• in primary chondrocyte cultures, BrdU incorporation was reduced

craniofacial

mandibular hyperostosis ( J:97104 )

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

growth/size/body

postnatal growth retardation ( J:97104 )

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

limbs/digits/tail

bowed tibia ( J:97104 )

• at birth, bending of the tibia was present

skeleton

mandibular hyperostosis ( J:97104 )

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

bowed tibia ( J:97104 )

• at birth, bending of the tibia was present

abnormal long bone hypertrophic chondrocyte zone ( J:97104 )

• cell death in the hypertrophic zone as determined by TUNEL assay was reduced

abnormal long bone epiphysis morphology ( J:97104 )

• in the tibial and femoral epiphysis of P1 to P60 mice, chondrocyte size was variable with many smaller cells

decreased length of long bones ( J:97104 )

• by P60, shortening of long bones and tubular bones were observed

kyphosis ( J:97104 )

• visible at postnatal day 14

• progressively worsen until P60

osteoporosis ( J:97104 )

• the long bones were osteoporotic

• epiphyseal and metaphyseal trabecular structure were thinner, fewer and poorly connected to each other

abnormal joint morphology ( J:97104 )

• degeneration and fragmentation of articular cartilage of the knee joints and hypertrophy of the synovia

delayed endochondral bone ossification ( J:97104 )

• 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