Phenotypes Associated with This Genotype

Genotype
MGI:2654730

• Allelic Composition: Ror2^tm1Gdy/Ror2^tm1Gdy
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

perinatal lethality, complete penetrance ( J:60754 )

skeleton

short nasal bone ( J:134490 )

• at E18.5

abnormal long bone morphology ( J:60754 )

abnormal phalanx morphology ( J:60754 )

• absence of the middle phalanges at E13, E14, and birth

abnormal humerus morphology ( J:60754 )

• subtly abnormal in shape at birth

short humerus ( J:60754 )

• 10 - 20% shorter than controls at birth

abnormal radius morphology ( J:60754 )

• severely deformed at birth

short radius ( J:60754 )

• 50 - 60% shorter than controls at birth

abnormal ulna morphology ( J:60754 )

• severely deformed at birth

short ulna ( J:60754 )

• 50 - 60% shorter than controls at birth

abnormal femur morphology ( J:60754 )

• subtly abnormal in shape at birth

short femur ( J:60754 )

• 10 - 20% shorter than controls at birth

abnormal fibula morphology ( J:60754 )

• severely deformed at birth

short fibula ( J:60754 )

• 50 - 60% shorter than controls at birth

abnormal tibia morphology ( J:60754 )

• severely deformed at birth

short tibia ( J:60754 )

• 50 - 60% shorter than controls at birth

rib fusion ( J:134490 )

• present at E18.5 in all homozygotes

abnormal vertebral column morphology ( J:60754 )

abnormal vertebrae morphology ( J:134490 )

• hypoplastic and irregularly stacked at E14.5

• smaller and titled at E18.5

abnormal caudal vertebrae morphology ( J:60754 )

• deformed at birth

small caudal vertebrae ( J:60754 )

• at birth

short lumbar vertebrae ( J:60754 )

• smaller in length and width but not grossly misshapen

abnormal skeleton development ( J:134490 )

• hypoplastic with reduction in the size of all anlagens at E14.5

abnormal long bone epiphyseal plate morphology ( J:60754 )

• at E15.5 - E17.5, distal long bones fail to develop a central hypertophic zone divided by a central ossification zone and instead display eccentric hypertrophy covered by an ossified collar forming a bony knob on one side of the bone

• at E17.5, overall width of the growth plate is reduced

abnormal long bone epiphyseal plate proliferative zone ( J:60754 )

• at E17.5 the width is reduced by almost 50% compared to controls

increased width of hypertrophic chondrocyte zone ( J:60754 )

• increased by 23-38% at E17.5

abnormal endochondral bone ossification ( J:60754 )

• widespread abnormalities in bones formed by endochondral ossification with a tendency for more severe abnormalities in more distal bones

• however, intramembranous ossification of bones in the skull appears normal

delayed endochondral bone ossification ( J:60754 , J:134490 )

• at E15 ossification and hypertrophication are delayed in the distal limbs (J:60754)

• delayed ossification of the metacarpals and phalanges at E18.5 (J:134490)

craniofacial

short nasal bone ( J:134490 )

• at E18.5

cleft palate ( J:60754 )

short snout ( J:60754 )

• at birth

limbs/digits/tail

abnormal phalanx morphology ( J:60754 )

• absence of the middle phalanges at E13, E14, and birth

brachydactyly ( J:60754 )

abnormal humerus morphology ( J:60754 )

• subtly abnormal in shape at birth

short humerus ( J:60754 )

• 10 - 20% shorter than controls at birth

abnormal radius morphology ( J:60754 )

• severely deformed at birth

short radius ( J:60754 )

• 50 - 60% shorter than controls at birth

abnormal ulna morphology ( J:60754 )

• severely deformed at birth

short ulna ( J:60754 )

• 50 - 60% shorter than controls at birth

abnormal hindlimb stylopod morphology ( J:134490 )

• severely misshapen at E18.5

abnormal femur morphology ( J:60754 )

• subtly abnormal in shape at birth

short femur ( J:60754 )

• 10 - 20% shorter than controls at birth

abnormal fibula morphology ( J:60754 )

• severely deformed at birth

short fibula ( J:60754 )

• 50 - 60% shorter than controls at birth

abnormal tibia morphology ( J:60754 )

• severely deformed at birth

short tibia ( J:60754 )

• 50 - 60% shorter than controls at birth

abnormal limb development ( J:60754 , J:134490 )

• fore- and hindlimb anlagen is smaller than normal at E13 and E14 (J:60754)

• at E15 distal limb anlagen is shorter and deformed (J:60754)

• reduced size of cartilage condensations at E14.5 (J:134490)

abnormal digit development ( J:134490 )

• impaired segmentation of the digital rays at E14.5

short limbs ( J:60754 )

• at birth

abnormal tail morphology ( J:60754 )

abnormal caudal vertebrae morphology ( J:60754 )

• deformed at birth

small caudal vertebrae ( J:60754 )

• at birth

short tail ( J:60754 )

• at birth

digestive/alimentary system

cleft palate ( J:60754 )

growth/size/body

short nasal bone ( J:134490 )

• at E18.5

cleft palate ( J:60754 )

short snout ( J:60754 )

• at birth

respiratory system

short nasal bone ( J:134490 )

• at E18.5