Phenotypes Associated with This Genotype

Genotype
MGI:3793282

• Allelic Composition: Ror2^tm1Anec/Ror2^tm1Anec
• Genetic Background: B6.129S1-Ror2^tm1Anec

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

cellular

oligozoospermia ( J:134490 )

♂ • reduced number but normal motility and fertilization capability

skeleton

abnormal phalanx morphology ( J:134490 )

• absence of P2

brachyphalangia ( J:134490 )

short metacarpal bones ( J:134490 )

abnormal axial skeleton morphology ( J:134490 )

• reduced longitudinal axis

large orbits ( J:134490 )

• increased intra-orbital width

short mandible ( J:134490 )

• resulting from reduced length of the anterior region from the infradentale to the menton landmarks

abnormal nasal bone morphology ( J:134490 )

broad nasal bone ( J:134490 )

short nasal bone ( J:134490 )

rib fusion ( J:134490 )

• present at E18.5 in association with misshapen thoracic vertebrae

abnormal intervertebral disk morphology ( J:134490 )

• shortened at E18.5

abnormal vertebrae morphology ( J:134490 )

• deformities and titling are seen at E14.5

• hypoplastic and irregularly stacked at E14.5

• smaller and titled at E18.5

abnormal caudal vertebrae morphology ( J:134490 )

• presence of hemivertebrae results in tail kinks

caudal vertebral fusion ( J:134490 )

• seen in about 5% of mice

abnormal thoracic vertebrae morphology ( J:134490 )

• misshapen in about 20% of mice at E18.5

vertebral body hypoplasia ( J:134490 )

decreased trabecular bone volume ( J:134490 )

• at 3 weeks of age a 52% reduction in trabecular bone volume is seen in the femur

decreased bone trabecula number ( J:134490 )

• at 3 weeks of age a a 57% decrease in the number of trabeculae is seen in the femur

abnormal skeleton development ( J:134490 )

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

abnormal cartilage development ( J:134490 )

• reduced number of cells in chondrogenic condensations at E13; however cell density appears unaffected

• onset of developmental hallmarks (hypertrophy, vascularization) is delayed

abnormal bone mineralization ( J:134490 )

• mineral apposition rate is lower but mineralizing surface per bone surface is increased resulting in an increased calculated bone formation rate

delayed endochondral bone ossification ( J:134490 )

• delayed ossification of the metacarpals, metatarsals, and phalanges at E18.5

limbs/digits/tail

abnormal limb morphology ( J:134490 )

• stylopod and zeugopod bones are 12-19% shorter than in controls at weaning but this difference decreases with age

abnormal digit morphology ( J:134490 )

• 5% display bifid digit I on the right hind paw

abnormal phalanx morphology ( J:134490 )

• absence of P2

brachyphalangia ( J:134490 )

brachydactyly ( J:134490 )

• on fore and hind paws

short metacarpal bones ( J:134490 )

abnormal limb development ( J:134490 )

• reduced size of cartilage condensations at E14.5

abnormal digit development ( J:134490 )

• impaired segmentation of the digital rays at E14.5 but otherwise patterning is normal

abnormal caudal vertebrae morphology ( J:134490 )

• presence of hemivertebrae results in tail kinks

caudal vertebral fusion ( J:134490 )

• seen in about 5% of mice

kinked tail ( J:134490 )

• 25% have one or more tail kinks

growth/size/body

abnormal nasal bone morphology ( J:134490 )

broad nasal bone ( J:134490 )

short nasal bone ( J:134490 )

short snout ( J:134490 )

increased lean body mass ( J:134490 )

• increased relative to body weight

decreased body size ( J:134490 )

• detectable before weaning

decreased body length ( J:134490 )

• decrease in length but not in width

adipose tissue

decreased total body fat amount ( J:134490 )

• decreased fat mass

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:134490 )

N • despite changes in body mass, no significant differences in metabolic parameters or glucose or insulin tolerances are detected

reproductive system

oligozoospermia ( J:134490 )

♂ • reduced number but normal motility and fertilization capability

abnormal seminiferous tubule morphology ( J:134490 )

♂ • in early puberty the density of tubules is decreased and only a single basal cell layer is present within the tubules

♂ • these abnormalities are partially resolved in adults

small seminiferous tubules ( J:134490 )

♂ • in early puberty

decreased testis weight ( J:134490 )

♂ • at 2 months of age

reduced male fertility ( J:134490 )

♂ • in trial matings to CD-1 females the pregnancy rate is 4% compared to 15% for heterozygous controls

♂ • however, female fertility is normal

vision/eye

large orbits ( J:134490 )

• increased intra-orbital width

entropion ( J:134490 )

• often associated with excessive tearing

excessive tearing ( J:134490 )

craniofacial

large orbits ( J:134490 )

• increased intra-orbital width

short mandible ( J:134490 )

• resulting from reduced length of the anterior region from the infradentale to the menton landmarks

abnormal nasal bone morphology ( J:134490 )

broad nasal bone ( J:134490 )

short nasal bone ( J:134490 )

short snout ( J:134490 )

endocrine/exocrine glands

abnormal seminiferous tubule morphology ( J:134490 )

♂ • in early puberty the density of tubules is decreased and only a single basal cell layer is present within the tubules

♂ • these abnormalities are partially resolved in adults

small seminiferous tubules ( J:134490 )

♂ • in early puberty

decreased testis weight ( J:134490 )

♂ • at 2 months of age

respiratory system

abnormal nasal bone morphology ( J:134490 )

broad nasal bone ( J:134490 )

short nasal bone ( J:134490 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive Robinow syndrome		DOID:0060764	OMIM:268310	J:134490