Mouse Genome Informatics
hm
    Ror2tm1Ymi/Ror2tm1Ymi
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Ror2Y324C/Ror2Y324C and Ror2tm1Ymi/Ror2tm1Ymi mice exhibit short tails at E10.75

mortality/aging
• newborn mice die within 6 hours of birth (J:60125)

cardiovascular system
• complete transposition of the great arteries
• defects of the membranous portion of the cardiac ventricular septum were found in all mutant pups examined

growth/size
• nasal capsule is truncated and thickened, usually only on one side of the embryo
• due to impaired fusion of palatine bones
• palatal shelves form but do not elevate (Fig. 2, M,N)
• after E12.5 embryos (and newborns) are 80-90% normal size (J:60125)

embryogenesis
• after E12.5 embryos (and newborns) are 80-90% normal size (J:60125)
• presomitic mesoderm is smaller and somite epithelialization is perturbed
• somites have an irregular cone-like shape at E13.5
• somites are reduced in the antero-posterior dimension at E13.5
• size of tail bud is reduced to about half the size of wild-type at E9.5-10.5

skeleton
• an ectopic cartilage is present at the skull, extending out from the anterolateral process of the ala temporalis
• the ectopic cartilage is fused with the tegmen tympani of the otic capsule above the incus and malleus bones of the middle ear of the ala temporalis
• the trabecular basal plate is shortened, reducing the size of the fenestra sphenoparietalis on each side
• skull is broadened at E14.5 and E16.5
• at E18.5, the angle between the angular process and the condylar process of the jaw point are disrupted and the two processes lie over each other
• ossification of maxilla is delayed
• defective ear ossicles
• the caudal part of the malleus forms but is cut off from the main body
• shortening of the long bones of the appendicular skeleton
• short ulna
• metacarpals appear shortened and thickened
• fusion of adjacent ribs seen frequently
• severe vertebral malformations of the cervical and thoracic spine consisting of fused and split vertebrae and an irregular rib pattern
• sacral vertebrae are smaller, tilted, and partially fused with compressed or occasionally missing intervertebral discs
• formation and ossification of vertebrae was abnormal
• Meckel's cartilage is truncated at E14.5
• the rostral process of Meckel's cartilage fails to form at the distal tip, the tip is thickened and points downward
• nasal capsule is truncated and thickened, usually only on one side of the embryo
• shortened longitudinal columns of proliferative chondrocytes
• in the humerus, columnar zone is reduced and chondrocytes have an oval shape rather than a flat shape
• in the ulna, chondrocytes have a round shape, remain immature, and no columns are established at E15.5
• in the ulna, no hypertrophic chondrocytes are seen at E15.5
• in the humerus, fewer and small hypertrophic chondrocytes are formed, resulting in a reduced hypertrophic zone
• reduced numbers of small flattened chondrocytes (J:60125)
• delay in chondrocyte differentiation at E15.5 (J:88955)
• ossification is delayed in the zeugopod and maxilla

craniofacial
• an ectopic cartilage is present at the skull, extending out from the anterolateral process of the ala temporalis
• the ectopic cartilage is fused with the tegmen tympani of the otic capsule above the incus and malleus bones of the middle ear of the ala temporalis
• the trabecular basal plate is shortened, reducing the size of the fenestra sphenoparietalis on each side
• skull is broadened at E14.5 and E16.5
• at E18.5, the angle between the angular process and the condylar process of the jaw point are disrupted and the two processes lie over each other
• ossification of maxilla is delayed
• defective ear ossicles
• the caudal part of the malleus forms but is cut off from the main body
• Meckel's cartilage is truncated at E14.5
• the rostral process of Meckel's cartilage fails to form at the distal tip, the tip is thickened and points downward
• nasal capsule is truncated and thickened, usually only on one side of the embryo
• due to impaired fusion of palatine bones
• palatal shelves form but do not elevate (Fig. 2, M,N)

homeostasis/metabolism

limbs/digits/tail
• size of tail bud is reduced to about half the size of wild-type at E9.5-10.5
• autopod is only slightly reduced
• digits have a shortened and thickened appearance
• duplicated first digit on the right hind limb in about 20% of homozygotes
• stylopod is only slightly reduced, leading to mesomelic shortening of the limb
• shortened by about 50% and exhibits a considerable delay of ossification
• short ulna
• stylopod is only slightly reduced, leading to mesomelic shortening of the limb
• shortened by about 50% and exhibits a considerable delay of ossification
• metacarpals appear shortened and thickened

respiratory system
• nasal capsule is truncated and thickened, usually only on one side of the embryo
• alveoli of lungs never completely expand
• newborn mice exhibit forced respiration

hearing/vestibular/ear
• defective ear ossicles
• the caudal part of the malleus forms but is cut off from the main body

reproductive system
• skewed distribution at E11.5
• genital tubercle at E13.5 shows that the tip has reached only half the size of the controls

digestive/alimentary system
• due to impaired fusion of palatine bones
• palatal shelves form but do not elevate (Fig. 2, M,N)

cellular
• skewed distribution at E11.5

Mouse Models of Human Disease
OMIM IDRef(s)
Robinow Syndrome, Autosomal Recessive; RRS 268310 J:88955