Mouse Genome Informatics
hm
    Ror2tm1Anec/Ror2tm1Anec
B6.129S1-Ror2tm1Anec
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
skeleton
• absence of P2
• reduced longitudinal axis
• increased intra-orbital width
• resulting from reduced length of the anterior region from the infradentale to the menton landmarks
• present at E18.5 in association with misshapen thoracic vertebrae
• deformities and titling are seen at E14.5
• hypoplastic and irregularly stacked at E14.5
• smaller and titled at E18.5
• presence of hemivertebrae results in tail kinks
• seen in about 5% of mice
• misshapen in about 20% of mice at E18.5
• at 3 weeks of age a 52% reduction in trabecular bone volume is seen in the femur
• at 3 weeks of age a a 57% decrease in the number of trabeculae is seen in the femur
• hypoplastic with reduction in the size of all anlagens at E14.5
• reduced number of cells in chondrogenic condensations at E13; however cell density appears unaffected
• onset of developmental hallmarks (hypertrophy, vascularization) is delayed
• mineral apposition rate is lower but mineralizing surface per bone surface is increased resulting in an increased calculated bone formation rate
• delayed ossification of the metacarpals, metatarsals, and phalanges at E18.5

limbs/digits/tail
• stylopod and zeugopod bones are 12-19% shorter than in controls at weaning but this difference decreases with age
• 5% display bifid digit I on the right hind paw
• absence of P2
• on fore and hind paws
• reduced size of cartilage condensations at E14.5
• impaired segmentation of the digital rays at E14.5 but otherwise patterning is normal
• presence of hemivertebrae results in tail kinks
• seen in about 5% of mice
• 25% have one or more tail kinks

growth/size/body
• decreased fat mass
• increased relative to body weight
• detectable before weaning
• decrease in length but not in width

adipose tissue
• decreased fat mass

homeostasis/metabolism
N
• despite changes in body mass, no significant differences in metabolic parameters or glucose or insulin tolerances are detected (J:134490)

reproductive system
• in early puberty the density of tubules is decreased and only a single basal cell layer is present within the tubules (J:134490)
• these abnormalities are partially resolved in adults (J:134490)
• in early puberty (J:134490)
• at 2 months of age (J:134490)
• reduced number but normal motility and fertilization capability (J:134490)
• in trial matings to CD-1 females the pregnancy rate is 4% compared to 15% for heterozygous controls (J:134490)
• however, female fertility is normal (J:134490)

vision/eye
• increased intra-orbital width
• often associated with excessive tearing

craniofacial
• increased intra-orbital width
• resulting from reduced length of the anterior region from the infradentale to the menton landmarks

endocrine/exocrine glands
• in early puberty the density of tubules is decreased and only a single basal cell layer is present within the tubules (J:134490)
• these abnormalities are partially resolved in adults (J:134490)
• in early puberty (J:134490)
• at 2 months of age (J:134490)

Mouse Models of Human Disease
OMIM IDRef(s)
Robinow Syndrome, Autosomal Recessive; RRS 268310 J:134490