Phenotypes associated with this allele

• Allele Symbol: Tg(COL2A1*R519C)#Afe
• Allele Name: transgene insertion, Andrzej Fertala
• Allele ID: MGI:7311638
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
tg1	Tg(COL2A1*R519C)#Afe/Tg(COL2A1*R519C)#Afe	involves: FVB/N	MGI:7311660
tg2	Tg(COL2A1*R519C)#Afe/0	involves: FVB/N	MGI:7311662

Genotype
MGI:7311660

tg1

• 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

Genotype
MGI:7311662

tg2

• Allelic Composition: Tg(COL2A1*R519C)#Afe/0
• Genetic Background: involves: FVB/N

skeleton

abnormal cartilage morphology ( J:307985 )

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

abnormal chondrocyte morphology ( J:307985 )

• articular chondrocytes display dilated Golgi cysternae

cellular

abnormal Golgi cisterna morphology ( J:307985 )

• articular chondrocytes display dilated Golgi cysternae

growth/size/body

growth/size/body region phenotype ( J:307985 )

N • unlike mice homozygous for the transgene, hemizygous mice are similar in size to wild-type controls and grossly normal at up to 6 months of age