Phenotypes associated with this allele

• Allele Symbol: Ror2^tm1Ymi
• Allele Name: targeted mutation 1, Yasuhiro Minami
• Allele ID: MGI:2183225
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ror2^tm1Ymi/Ror2^tm1Ymi	involves: 129P2/OlaHsd	MGI:3793284
hm2	Ror2^tm1Ymi/Ror2^tm1Ymi	involves: 129P2/OlaHsd * C57BL/6	MGI:3038706
cx3	Ror1^tm1Ymi/Ror1^tm1Ymi Ror2^tm1Ymi/Ror2^tm1Ymi	involves: 129P2/OlaHsd * C57BL/6	MGI:3038707

Genotype
MGI:3793284

hm1

• Allelic Composition: Ror2^tm1Ymi/Ror2^tm1Ymi
• Genetic Background: involves: 129P2/OlaHsd

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

limbs/digits/tail

brachyphalangia ( J:134490 )

• short but all phalanges are present unlike in mice homozygous for Ror2^tm1Anec

skeleton

brachyphalangia ( J:134490 )

• short but all phalanges are present unlike in mice homozygous for Ror2^tm1Anec

hearing/vestibular/ear

abnormal organ of Corti morphology ( J:140886 )

• organization is disrupted at E18.5

abnormal cochlear hair cell morphology ( J:140886 )

• some show randomized orientation of auditory hair cells

abnormal cochlear outer hair cell morphology ( J:140886 )

• alignment of outer hair cells into three rows is disturbed

nervous system

abnormal cochlear hair cell morphology ( J:140886 )

• some show randomized orientation of auditory hair cells

abnormal cochlear outer hair cell morphology ( J:140886 )

• alignment of outer hair cells into three rows is disturbed

Genotype
MGI:3038706

hm2

• Allelic Composition: Ror2^tm1Ymi/Ror2^tm1Ymi
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Ror2^Y324C/Ror2^Y324C and Ror2^tm1Ymi/Ror2^tm1Ymi mice exhibit short tails at E10.75

mortality/aging

neonatal lethality, complete penetrance ( J:60125 , J:88955 )

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

cardiovascular system

transposition of great arteries ( J:60125 )

• complete transposition of the great arteries

perimembraneous ventricular septal defect ( J:60125 )

• defects of the membranous portion of the cardiac ventricular septum were found in all mutant pups examined

growth/size/body

abnormal nasal capsule morphology ( J:88955 )

• nasal capsule is truncated and thickened, usually only on one side of the embryo

midface hypoplasia ( J:88955 )

cleft secondary palate ( J:88955 )

• due to impaired fusion of palatine bones

failure of palatal shelf elevation ( J:88955 )

• palatal shelves form but do not elevate

decreased embryo size ( J:60125 , J:88955 )

• after E12.5 embryos (and newborns) are 80-90% normal size (J:60125)

embryo

decreased embryo size ( J:60125 , J:88955 )

• after E12.5 embryos (and newborns) are 80-90% normal size (J:60125)

abnormal somite development ( J:88955 )

• presomitic mesoderm is smaller and somite epithelialization is perturbed

abnormal somite shape ( J:88955 )

• somites have an irregular cone-like shape at E13.5

abnormal somite size ( J:88955 )

• somites are reduced in the antero-posterior dimension at E13.5

small tail bud ( J:88955 )

• size of tail bud is reduced to about half the size of wild-type at E9.5-10.5

skeleton

abnormal cranium morphology ( J:88955 )

• 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

increased cranium width ( J:88955 )

• skull is broadened at E14.5 and E16.5

abnormal jaw morphology ( J:88955 )

abnormal mandible morphology ( 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

abnormal mandibular angle morphology ( J:88955 )

abnormal mandibular condyloid process morphology ( J:88955 )

short mandible ( J:88955 )

abnormal maxilla morphology ( J:88955 )

• ossification of maxilla is delayed

abnormal middle ear ossicle morphology ( J:88955 )

• defective ear ossicles

abnormal malleus morphology ( J:88955 )

• the caudal part of the malleus forms but is cut off from the main body

decreased length of long bones ( J:88955 )

• shortening of the long bones of the appendicular skeleton

short radius ( J:88955 )

short ulna ( J:88955 )

• short ulna

short metacarpal bones ( J:88955 )

• metacarpals appear shortened and thickened

abnormal rib morphology ( J:60125 )

rib fusion ( J:60125 )

• fusion of adjacent ribs seen frequently

abnormal vertebrae morphology ( J:88955 )

• severe vertebral malformations of the cervical and thoracic spine consisting of fused and split vertebrae and an irregular rib pattern

abnormal sacral vertebrae morphology ( J:88955 )

• sacral vertebrae are smaller, tilted, and partially fused with compressed or occasionally missing intervertebral discs

sacral vertebral fusion ( J:88955 )

small sacral vertebrae ( J:88955 )

abnormal vertebrae development ( J:60125 )

• formation and ossification of vertebrae was abnormal

abnormal cartilage morphology ( J:60125 )

abnormal Meckel's cartilage morphology ( J:88955 )

• 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

short Meckel's cartilage ( J:88955 )

• Meckel's cartilage is truncated at E14.5

abnormal nasal capsule morphology ( J:88955 )

• nasal capsule is truncated and thickened, usually only on one side of the embryo

abnormal cartilage development ( J:60125 )

• shortened longitudinal columns of proliferative chondrocytes

abnormal long bone epiphyseal plate proliferative zone ( J:88955 )

• 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

decreased width of hypertrophic chondrocyte zone ( J:88955 )

• in the humerus, fewer and small hypertrophic chondrocytes are formed, resulting in a reduced hypertrophic zone

• in the ulna, no hypertrophic chondrocytes are seen at E15.5

delayed chondrocyte differentiation ( J:60125 , J:88955 )

• reduced numbers of small flattened chondrocytes (J:60125)

• delay in chondrocyte differentiation at E15.5 (J:88955)

delayed bone ossification ( J:88955 )

• ossification is delayed in the zeugopod and maxilla

craniofacial

abnormal cranium morphology ( J:88955 )

• 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

increased cranium width ( J:88955 )

• skull is broadened at E14.5 and E16.5

abnormal jaw morphology ( J:88955 )

abnormal mandible morphology ( 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

abnormal mandibular angle morphology ( J:88955 )

abnormal mandibular condyloid process morphology ( J:88955 )

short mandible ( J:88955 )

abnormal maxilla morphology ( J:88955 )

• ossification of maxilla is delayed

abnormal middle ear ossicle morphology ( J:88955 )

• defective ear ossicles

abnormal malleus morphology ( J:88955 )

• the caudal part of the malleus forms but is cut off from the main body

abnormal craniofacial development ( J:88955 )

• mice exhibit a craniofacial outgrowth defect

abnormal Meckel's cartilage morphology ( J:88955 )

• 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

short Meckel's cartilage ( J:88955 )

• Meckel's cartilage is truncated at E14.5

abnormal nasal capsule morphology ( J:88955 )

• nasal capsule is truncated and thickened, usually only on one side of the embryo

midface hypoplasia ( J:88955 )

cleft secondary palate ( J:88955 )

• due to impaired fusion of palatine bones

failure of palatal shelf elevation ( J:88955 )

• palatal shelves form but do not elevate

homeostasis/metabolism

abnormal blood homeostasis ( J:60125 )

cyanosis ( J:60125 )

limbs/digits/tail

small tail bud ( J:88955 )

• size of tail bud is reduced to about half the size of wild-type at E9.5-10.5

abnormal limb morphology ( J:88955 )

abnormal autopod morphology ( J:88955 )

• autopod is only slightly reduced

brachydactyly ( J:88955 )

• digits have a shortened and thickened appearance

polydactyly ( J:88955 )

• duplicated first digit on the right hind limb in about 20% of homozygotes

abnormal forelimb stylopod morphology ( J:88955 )

• stylopod is only slightly reduced, leading to mesomelic shortening of the limb

abnormal forelimb zeugopod morphology ( J:88955 )

• shortened by about 50% and exhibits a considerable delay of ossification

short radius ( J:88955 )

short ulna ( J:88955 )

• short ulna

abnormal hindlimb stylopod morphology ( J:88955 )

• stylopod is only slightly reduced, leading to mesomelic shortening of the limb

abnormal hindlimb zeugopod morphology ( J:88955 )

• shortened by about 50% and exhibits a considerable delay of ossification

short metacarpal bones ( J:88955 )

• metacarpals appear shortened and thickened

short tail ( J:88955 )

respiratory system

abnormal nasal capsule morphology ( J:88955 )

• nasal capsule is truncated and thickened, usually only on one side of the embryo

abnormal pulmonary alveolus morphology ( J:60125 )

• alveoli of lungs never completely expand

respiratory distress ( J:60125 )

• newborn mice exhibit forced respiration

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:88955 )

• defective ear ossicles

abnormal malleus morphology ( J:88955 )

• the caudal part of the malleus forms but is cut off from the main body

abnormal tegmen tympani morphology ( J:88955 )

• an 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

reproductive system

decreased primordial germ cell number ( J:179805 )

• at E11.5 and E12.5

abnormal primordial germ cell migration ( J:179805 )

• skewed distribution at E11.5

genital tubercle hypoplasia ( J:88955 )

• genital tubercle at E13.5 shows that the tip has reached only half the size of the controls

digestive/alimentary system

cleft secondary palate ( J:88955 )

• due to impaired fusion of palatine bones

failure of palatal shelf elevation ( J:88955 )

• palatal shelves form but do not elevate

cellular

decreased primordial germ cell number ( J:179805 )

• at E11.5 and E12.5

abnormal primordial germ cell migration ( J:179805 )

• skewed distribution at E11.5

vision/eye

ocular hypertelorism ( J:88955 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive Robinow syndrome		DOID:0060764	OMIM:268310	J:88955

Genotype
MGI:3038707

cx3

• Allelic Composition: Ror1^tm1Ymi/Ror1^tm1Ymi; Ror2^tm1Ymi/Ror2^tm1Ymi
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

perinatal lethality, incomplete penetrance ( J:72948 )

• most double homozygotes were dead at birth

cardiovascular system

transposition of great arteries ( J:72948 )

• complete transposition of the great arteries

ventricular septal defect ( J:72948 )

skeleton

abnormal long bone morphology ( J:72948 )

• dysplasia of both distal and proximal long bones

absent sternum ( J:72948 )

• sternal agenesis

abnormal pubic symphysis morphology ( J:72948 )

• dysplasia of the pubic symphysis

abnormal cartilage morphology ( J:72948 )

abnormal cartilage development ( J:72948 )

• shortened longitudinal columns of proliferative chondrocytes

abnormal chondrocyte morphology ( J:72948 )

• reduced numbers of small flattened chondrocytes