Phenotypes associated with this allele

• Allele Symbol: Ror1^tm1Ymi
• Allele Name: targeted mutation 1, Yasuhiro Minami
• Allele ID: MGI:2183224
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ror1^tm1Ymi/Ror1^tm1Ymi	involves: 129P2/OlaHsd	MGI:5823012
hm2	Ror1^tm1Ymi/Ror1^tm1Ymi	involves: 129P2/OlaHsd * C57BL/6	MGI:3038705
cx3	Ror1^tm1Ymi/Ror1^tm1Ymi Ror2^tm1Ymi/Ror2^tm1Ymi	involves: 129P2/OlaHsd * C57BL/6	MGI:3038707

Genotype
MGI:5823012

hm1

• Allelic Composition: Ror1^tm1Ymi/Ror1^tm1Ymi
• Genetic Background: involves: 129P2/OlaHsd

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

cellular

abnormal axon fasciculation ( J:232175 )

• spiral ganglion neuron axons in the cochlea fail to fasciculate correctly, arranging in less condensed bundles

hearing/vestibular/ear

abnormal cochlea morphology ( J:232175 )

• shortened cochleae

• however, stereociliary bundle morphology and orientation are normal, vestibular anatomy is normal and mice do not show circling or balance defects

abnormal cochlear hair cell morphology ( J:232175 )

• increase in hair cell density towards the apex, suggesting that the shortened cochlea is due to impaired convergent extension

decreased cochlea coiling ( J:232175 )

• under-coiled cochleae

increased or absent threshold for auditory brainstem response ( J:232175 )

• auditory brainstem response thresholds for the click and all tested frequencies (8-24 kHz) are > 70 dB, indicating severe deafness

decreased distortion product otoacoustic emission amplitude ( J:232175 )

• all mice have distortion product-evoked otoacoustic emissions, however amplitudes produced by mutants are reduced in low/mid frequencies bur remain normal at the highest tested frequency (24 kHz)

deafness ( J:232175 )

nervous system

abnormal axon fasciculation ( J:232175 )

• spiral ganglion neuron axons in the cochlea fail to fasciculate correctly, arranging in less condensed bundles

abnormal cochlear hair cell morphology ( J:232175 )

• increase in hair cell density towards the apex, suggesting that the shortened cochlea is due to impaired convergent extension

abnormal sensory neuron innervation pattern ( J:232175 )

• type II spiral ganglion neurons show aberrant projections through the cochlear sensory epithelium and a reduction of the density of axons is seen throughout the organ of Corti

• in the apex of the organ of Corti, some axons aberrantly turn toward the apex

abnormal synapse morphology ( J:232175 )

• impairment of synapses between inner hair cells and type I spiral ganglion neurons

abnormal ribbon synapse morphology ( J:232175 )

• postsynaptic glutamate receptors are not detectable in ribbon synapses

Genotype
MGI:3038705

hm2

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

mortality/aging

neonatal lethality, complete penetrance ( J:72948 )

• newborn mice die within 24 hours of birth

homeostasis/metabolism

abnormal blood homeostasis ( J:72948 )

cyanosis ( J:72948 )

respiratory system

abnormal pulmonary alveolus morphology ( J:72948 )

• alveoli of lungs never completely expand

abnormal respiratory system physiology ( J:72948 )

respiratory distress ( J:72948 )

• newborn mice exhibit forced respiration

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