Phenotypes Associated with This Genotype

Genotype
MGI:4360706

• Allelic Composition: Has2^tm1.1Yama/Has2^tm1.1Yama; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * FVB/N * SJL/J

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

limbs/digits/tail

abnormal phalanx morphology ( J:152912 )

• the proximal phalanges of digits 2 and 5 are duplicated on all 4 limbs

• the proximal phalanges of digits 2 and 5 are misshapen on the forelimbs

• at P0 about 53% of mice show partial duplications of the proximal phalanges of digits 3 and 4

abnormal limb development ( J:152912 )

• at E16.5 the shoulder and elbow joints are smaller, less extensive, and contain numerous cells unlike in wild-type controls

abnormal digit development ( J:152912 )

• at E16.5 the carpal and phalangeal joint regions are larger than normal, filled with closely packed cells and lack distinct joint cavities

short limbs ( J:152912 )

• at E16.5 and P3 all of the skeletal elements are about half the length of wild-type littermates

behavior/neurological

abnormal gait ( J:152912 )

• move in a manner similar to pinnipeds

skeleton

abnormal phalanx morphology ( J:152912 )

• the proximal phalanges of digits 2 and 5 are duplicated on all 4 limbs

• the proximal phalanges of digits 2 and 5 are misshapen on the forelimbs

• at P0 about 53% of mice show partial duplications of the proximal phalanges of digits 3 and 4

abnormal cartilage morphology ( J:152912 )

• staining analysis indicates that deposition of proteoglycans and glycosaminoglycans is reduced

abnormal long bone epiphyseal plate morphology ( J:152912 )

• growth plates are severely disturbed and disorganized with increased cell density reflecting a decreased in the amount of cartilage matrix

abnormal long bone epiphyseal ossification zone morphology ( J:152912 )

• at P9 the hypertrophic zone fails to differentiate in the central region of the growth plate and vascular invasion of the growth plate is not seen

• no secondary ossification center is seen at P21

disorganized long bone epiphyseal plate ( J:152912 )

• columnar organization is absent

abnormal chondrocyte morphology ( J:152912 )

• in long bone epiphyseal plates the chondrocytes are small, round and randomly distributed

decreased chondrocyte number ( J:152912 )

• decrease in the number of hypertrophic chondrocytes in the long bone epiphyseal plates

• however, there is little to no difference in chondrocyte proliferation in the epiphyseal plates

abnormal joint morphology ( J:152912 )

• at E16.5 the carpal and phalangeal joint regions are larger than normal, filled with closely packed cells and lack distinct joint cavities

• at E16.5 the shoulder and elbow joints are smaller, less extensive, and contain numerous cells unlike in wild-type controls

• formation of synovial joint cavities is defective in the proximal joints of the limbs