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Phenotypes Associated with This Genotype
Genotype
MGI:3038706
Allelic
Composition
Ror2tm1Ymi/Ror2tm1Ymi
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ror2tm1Ymi mutation (0 available); any Ror2 mutation (73 available)
phenotype observed in females
phenotype observed in males
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)
• newborn mice die within 6 hours of birth (J:60125)

cardiovascular system
• complete transposition of the great arteries (J:60125)
• complete transposition of the great arteries (J:60125)
• defects of the membranous portion of the cardiac ventricular septum were found in all mutant pups examined (J:60125)
• defects of the membranous portion of the cardiac ventricular septum were found in all mutant pups examined (J:60125)

growth/size/body
• nasal capsule is truncated and thickened, usually only on one side of the embryo (J:88955)
• nasal capsule is truncated and thickened, usually only on one side of the embryo (J:88955)
• due to impaired fusion of palatine bones (J:88955)
• due to impaired fusion of palatine bones (J:88955)
• palatal shelves form but do not elevate (Fig. 2, M,N) (J:88955)
• palatal shelves form but do not elevate (Fig. 2, M,N) (J:88955)
• after E12.5 embryos (and newborns) are 80-90% normal size (J:60125)
• 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)
• after E12.5 embryos (and newborns) are 80-90% normal size (J:60125)
• presomitic mesoderm is smaller and somite epithelialization is perturbed (J:88955)
• presomitic mesoderm is smaller and somite epithelialization is perturbed (J:88955)
• somites have an irregular cone-like shape at E13.5 (J:88955)
• somites have an irregular cone-like shape at E13.5 (J:88955)
• somites are reduced in the antero-posterior dimension at E13.5 (J:88955)
• somites are reduced in the antero-posterior dimension at E13.5 (J:88955)
• size of tail bud is reduced to about half the size of wild-type at E9.5-10.5 (J:88955)
• size of tail bud is reduced to about half the size of wild-type at E9.5-10.5 (J:88955)

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

craniofacial
• an ectopic cartilage is present at the skull, extending out from the anterolateral process of the ala temporalis (J:88955)
• 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 (J:88955)
• the trabecular basal plate is shortened, reducing the size of the fenestra sphenoparietalis on each side (J:88955)
• an ectopic cartilage is present at the skull, extending out from the anterolateral process of the ala temporalis (J:88955)
• 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 (J:88955)
• the trabecular basal plate is shortened, reducing the size of the fenestra sphenoparietalis on each side (J:88955)
• skull is broadened at E14.5 and E16.5 (J:88955)
• skull is broadened at E14.5 and E16.5 (J:88955)
• 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 (J:88955)
• 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 (J:88955)
• ossification of maxilla is delayed (J:88955)
• ossification of maxilla is delayed (J:88955)
• defective ear ossicles (J:88955)
• defective ear ossicles (J:88955)
• the caudal part of the malleus forms but is cut off from the main body (J:88955)
• the caudal part of the malleus forms but is cut off from the main body (J:88955)
• Meckel's cartilage is truncated at E14.5 (J:88955)
• the rostral process of Meckel's cartilage fails to form at the distal tip, the tip is thickened and points downward (J:88955)
• Meckel's cartilage is truncated at E14.5 (J:88955)
• the rostral process of Meckel's cartilage fails to form at the distal tip, the tip is thickened and points downward (J:88955)
• nasal capsule is truncated and thickened, usually only on one side of the embryo (J:88955)
• nasal capsule is truncated and thickened, usually only on one side of the embryo (J:88955)
• due to impaired fusion of palatine bones (J:88955)
• due to impaired fusion of palatine bones (J:88955)
• palatal shelves form but do not elevate (Fig. 2, M,N) (J:88955)
• palatal shelves form but do not elevate (Fig. 2, M,N) (J:88955)

homeostasis/metabolism

limbs/digits/tail
• size of tail bud is reduced to about half the size of wild-type at E9.5-10.5 (J:88955)
• size of tail bud is reduced to about half the size of wild-type at E9.5-10.5 (J:88955)
• autopod is only slightly reduced (J:88955)
• autopod is only slightly reduced (J:88955)
• digits have a shortened and thickened appearance (J:88955)
• digits have a shortened and thickened appearance (J:88955)
• duplicated first digit on the right hind limb in about 20% of homozygotes (J:88955)
• duplicated first digit on the right hind limb in about 20% of homozygotes (J:88955)
• stylopod is only slightly reduced, leading to mesomelic shortening of the limb (J:88955)
• stylopod is only slightly reduced, leading to mesomelic shortening of the limb (J:88955)
• shortened by about 50% and exhibits a considerable delay of ossification (J:88955)
• shortened by about 50% and exhibits a considerable delay of ossification (J:88955)
• short ulna (J:88955)
• short ulna (J:88955)
• stylopod is only slightly reduced, leading to mesomelic shortening of the limb (J:88955)
• stylopod is only slightly reduced, leading to mesomelic shortening of the limb (J:88955)
• shortened by about 50% and exhibits a considerable delay of ossification (J:88955)
• shortened by about 50% and exhibits a considerable delay of ossification (J:88955)
• metacarpals appear shortened and thickened (J:88955)
• metacarpals appear shortened and thickened (J:88955)

respiratory system
• nasal capsule is truncated and thickened, usually only on one side of the embryo (J:88955)
• nasal capsule is truncated and thickened, usually only on one side of the embryo (J:88955)
• alveoli of lungs never completely expand (J:60125)
• alveoli of lungs never completely expand (J:60125)
• newborn mice exhibit forced respiration (J:60125)
• newborn mice exhibit forced respiration (J:60125)

hearing/vestibular/ear
• defective ear ossicles (J:88955)
• defective ear ossicles (J:88955)
• the caudal part of the malleus forms but is cut off from the main body (J:88955)
• the caudal part of the malleus forms but is cut off from the main body (J:88955)

reproductive system
• skewed distribution at E11.5 (J:179805)
• skewed distribution at E11.5 (J:179805)
• at E11.5 and E12.5 (J:179805)
• at E11.5 and E12.5 (J:179805)
• genital tubercle at E13.5 shows that the tip has reached only half the size of the controls (J:88955)
• genital tubercle at E13.5 shows that the tip has reached only half the size of the controls (J:88955)

digestive/alimentary system
• due to impaired fusion of palatine bones (J:88955)
• due to impaired fusion of palatine bones (J:88955)
• palatal shelves form but do not elevate (Fig. 2, M,N) (J:88955)
• palatal shelves form but do not elevate (Fig. 2, M,N) (J:88955)

cellular
• skewed distribution at E11.5 (J:179805)
• skewed distribution at E11.5 (J:179805)

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


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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory