Phenotypes associated with this allele

• Allele Symbol: Col2a1^Rgsc413
• Allele Name: RIKEN Genomic Sciences Center (GSC), 413
• Allele ID: MGI:3800691
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col2a1^Rgsc413/Col2a1^Rgsc413	involves: C57BL/6JJcl * DBA/2JJcl	MGI:6151404
ht2	Col2a1^Rgsc413/Col2a1^+	involves: C57BL/6JJcl * DBA/2JJcl	MGI:3800693

Genotype
MGI:6151404

hm1

• Allelic Composition: Col2a1^Rgsc413/Col2a1^Rgsc413
• Genetic Background: involves: C57BL/6JJcl * DBA/2JJcl

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

mortality/aging

perinatal lethality, complete penetrance ( J:260538 )

• mice with severe dwarfism die at birth

skeleton

increased chondrocyte apoptosis ( J:260538 )

• of proliferating chondrocytes associated with ER stress

abnormal long bone epiphyseal plate proliferative zone ( J:260538 )

• markedly reduced

• expanded rough ER in chondrocytes of the proliferating zone

disorganized long bone epiphyseal plate ( J:260538 )

• loss of columnar alignment with spindle-like shaped chondrocytes and loss of type II collagen in extracellular spaces but rather the intracellular spaces of chondrocytes

abnormal pelvic girdle bone morphology ( J:260538 )

• severe pelvic hypoplasia

platyspondylia ( J:260538 )

craniofacial

short snout ( J:260538 )

growth/size/body

short snout ( J:260538 )

decreased body size ( J:260538 )

• severe

limbs/digits/tail

short limbs ( J:260538 )

• extremely shortened

cellular

increased chondrocyte apoptosis ( J:260538 )

• of proliferating chondrocytes associated with ER stress

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spondyloepimetaphyseal dysplasia		DOID:0080027		J:260538

Genotype
MGI:3800693

ht2

• Allelic Composition: Col2a1^Rgsc413/Col2a1⁺
• Genetic Background: involves: C57BL/6JJcl * DBA/2JJcl

skeleton

abnormal long bone epiphyseal plate proliferative zone ( J:260538 )

• slightly reduced

• expanded rough ER in chondrocytes of the proliferating zone

disorganized long bone epiphyseal plate ( J:260538 )

• disorganized columnar alignment with reduced extracellular matrix spaces

limbs/digits/tail

short forelimb ( J:133634 )

• mice heterozygous for this mutation have short forelimbs