Phenotypes associated with this allele

• Allele Symbol: Col2a1^Dmm
• Allele Name: disproportionate micromelia
• Allele ID: MGI:1857275
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col2a1^Dmm/Col2a1^Dmm	involves: 101 * C3H	MGI:2677214
ht2	Col2a1^Dmm/Col2a1^+	involves: 101 * C3H	MGI:2677215

Genotype
MGI:2677214

hm1

• Allelic Composition: Col2a1^Dmm/Col2a1^Dmm
• Genetic Background: involves: 101 * C3H

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

mortality/aging

perinatal lethality, complete penetrance ( J:17182 )

• death at birth from respiratory distress

prenatal lethality, incomplete penetrance ( J:6582 )

• fewer than expected at birth

craniofacial

abnormal neurocranium morphology ( J:6582 )

• short and broad

short mandible ( J:6582 )

cleft palate ( J:6582 )

growth/size/body

cleft palate ( J:6582 )

disproportionate dwarf ( J:6582 )

• evident at birth

limbs/digits/tail

short limbs ( J:6582 , J:37522 )

respiratory system

pulmonary hypoplasia ( J:17182 )

abnormal pulmonary alveolus morphology ( J:17182 )

• smaller than wild-type controls

abnormal lung volume ( J:17182 )

• reduced

respiratory distress ( J:17182 )

• inability to breathe at birth

skeleton

abnormal neurocranium morphology ( J:6582 )

• short and broad

short mandible ( J:6582 )

abnormal long bone epiphysis morphology ( J:6582 )

• loss of integrity

decreased length of long bones ( J:6582 )

• short long bones

short ribs ( J:17182 )

• shortened ribs, resulting in reduced size of thorax

small thoracic cage ( J:37522 )

• small rib cage, resulting in reduced size of the thorax

short vertebral column ( J:37522 )

abnormal chondrocyte morphology ( J:6582 , J:37522 )

• disorganized columnar array (J:6582)

digestive/alimentary system

cleft palate ( J:6582 )

Genotype
MGI:2677215

ht2

• Allelic Composition: Col2a1^Dmm/Col2a1⁺
• Genetic Background: involves: 101 * C3H

mortality/aging

postnatal lethality, incomplete penetrance ( J:6582 )

• 25% greater risk of death before weaning than wild-type littermates

craniofacial

shortened head ( J:6582 )

• short, blunt head

growth/size/body

shortened head ( J:6582 )

• short, blunt head

abnormal postnatal growth/weight/body size ( J:6582 )

• broad rump

disproportionate dwarf ( J:6582 )

• not evident at birth, but apparent at 1 week after birth and progressive

limbs/digits/tail

short limbs ( J:6582 )

skeleton

abnormal long bone epiphysis morphology ( J:6582 )

• reduction in height of proliferative and hypertrophic zones, but normal organization