Phenotypes Associated with This Genotype

Genotype
MGI:3768261

• Allelic Composition: Chst11^{Gt(PT-1)1Wran}/Chst11^{Gt(PT-1)1Wran}
• Genetic Background: Not Specified

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

mortality/aging

neonatal lethality, complete penetrance ( J:128547 )

• all mice die within 6 hours of birth due to respiratory distress

skeleton

short facial bone ( J:128547 )

• mice exhibit short facial bones

• however, cranial bones are normal

short mandible ( J:128547 )

short maxilla ( J:128547 )

short nasal bone ( J:128547 )

domed cranium ( J:128547 )

abnormal phalanx morphology ( J:128547 )

• phalanges 2 and 3 are absent from both fore- and hindlimbs

• however, ossification of the calcaneus, first phalanges and metatarsals occurs normally

abnormal talus morphology ( J:128547 )

• the talus is ossified unlike in wild-type

decreased length of long bones ( J:128547 )

increased diameter of long bones ( J:128547 )

• long bones are increased in width

small scapula ( J:128547 )

short ilium ( J:128547 )

• the iliac is decreased in length compared to wild-type

wide ilium ( J:128547 )

• the iliac is increased in width compared to wild-type

small thoracic cage ( J:128547 )

• at E18.5, mice possess small rib cages

abnormal vertebral column morphology ( J:128547 )

• at E18.5, mice have kinked vertebral columns

abnormal vertebrae morphology ( J:128547 )

• vertebrae are misshapen with poorly formed dorsal arches

abnormal vertebral arch morphology ( J:128547 )

• vertebrae are misshapen with poorly formed dorsal arches

abnormal cartilage morphology ( J:128547 )

• at E18.5, cartilage staining by Alcian Blue is decreased compared to in wild-type mice

• unlike in wild-type mice, the extracellular matrix surrounding chondrocytes contains extensive fibrillations

• however, early cartilage development is normal

abnormal epiphyseal plate morphology ( J:128547 )

• growth plates are disturbed, severely shortened, disorganized and hypocellular

• the bone collar is increased in thickness

• chondroitin sulfation balance and chondroitin sulfate spatial distribution are disrupted

• mice exhibit a 2-fold increase in proliferation in the proliferative and columnar zones compared to wild-type

• unlike in wild-type mice, apoptotic cells are present in all zones of the growth plate

• however, explants of metatarsal growth plates retain the capacity to respond to exogenous growth factors in culture

abnormal long bone hypertrophic chondrocyte zone ( J:128547 )

• the chondrocyte zone and in particular the columnar and hypertrophic zones are reduced in size

• there is a 3.5-fold increase in apoptotic cells in the hypertrophic zone compared to in wild-type

respiratory system

short nasal bone ( J:128547 )

respiratory distress ( J:128547 )

growth/size/body

short nasal bone ( J:128547 )

disproportionate dwarf ( J:128547 )

• mice exhibit severe dwarfism at birth

limbs/digits/tail

abnormal phalanx morphology ( J:128547 )

• phalanges 2 and 3 are absent from both fore- and hindlimbs

• however, ossification of the calcaneus, first phalanges and metatarsals occurs normally

abnormal talus morphology ( J:128547 )

• the talus is ossified unlike in wild-type

short limbs ( J:128547 )

craniofacial

short facial bone ( J:128547 )

• mice exhibit short facial bones

• however, cranial bones are normal

short mandible ( J:128547 )

short maxilla ( J:128547 )

short nasal bone ( J:128547 )

domed cranium ( J:128547 )