Phenotypes Associated with This Genotype

Genotype
MGI:7311660

• Allelic Composition: Tg(COL2A1*R519C)#Afe/Tg(COL2A1*R519C)#Afe
• Genetic Background: involves: FVB/N

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

mortality/aging

neonatal lethality, complete penetrance ( J:307985 )

• die shortly after birth

growth/size/body

cleft palate ( J:307985 )

• in all mice at birth

• stratified squamous epithelium is interrupted due to incomplete palate closure

short snout ( J:307985 )

• at birth

decreased birth body size ( J:307985 )

• newborns are smaller with slightly shorter limbs and snouts, smaller craniofacial skeleton, and shorter axial skeleton

skeleton

abnormal axial skeleton morphology ( J:307985 )

• shorter axial skeleton at birth

abnormal craniofacial bone morphology ( J:307985 )

• smaller craniofacial skeleton at birth

abnormal cartilage morphology ( J:307985 )

• decrease in the density of collagen fibrils in the interterritorial matrix

abnormal chondrocyte morphology ( J:307985 )

• in the area of hypertrophic chondrocytes the lacunae are disorganized with a lack of well-defined continuity of the interterritorial matrix between lacunae and appear smaller

• articular chondrocytes display dilated Golgi cysternae

respiratory system

abnormal nasopharynx morphology ( J:307985 )

• epidermis of the nasopharynx is replaced with respiratory epithelium

craniofacial

abnormal craniofacial bone morphology ( J:307985 )

• smaller craniofacial skeleton at birth

cleft palate ( J:307985 )

• in all mice at birth

• stratified squamous epithelium is interrupted due to incomplete palate closure

short snout ( J:307985 )

• at birth

digestive/alimentary system

cleft palate ( J:307985 )

• in all mice at birth

• stratified squamous epithelium is interrupted due to incomplete palate closure

cellular

abnormal Golgi cisterna morphology ( J:307985 )

• articular chondrocytes display dilated Golgi cysternae

limbs/digits/tail

short limbs ( J:307985 )

• slightly shorter at birth