Phenotypes Associated with This Genotype

Genotype
MGI:3758080

• Allelic Composition: Rara^tm1Ipc/Rara^tm1Ipc; Rarg^tm2Ipc/Rarg^tm2Ipc
• Genetic Background: involves: 129S2/SvPas

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:42773 )

• normal numbers are seen at E18.5, however only 3 survive the perinatal period and reach adulthood, indicating that a majority die around birth

renal/urinary system

renal hypoplasia ( J:42773 )

• 2/3 of mutants exhibit kidney hypoplasia

skeleton

abnormal axial skeleton morphology ( J:42773 )

• double mutants exhibit an increase in the frequency and severity of axial skeletal malformations compared to the single mutants

abnormal alisphenoid bone morphology ( J:42773 )

• 80% exhibit a bilateral pterygoquadrate element (a cartilaginous or osseous extension fusing the incus to the alisphenoid bone)

absent temporal bone zygomatic process ( J:42773 )

• 3 of 4 show bilateral agenesis of the zygomatic process of the squamosal bone

abnormal incus morphology ( J:42773 )

• 80% exhibit a bilateral pterygoquadrate element (a cartilaginous or osseous extension fusing the incus to the alisphenoid bone)

abnormal cricoid cartilage morphology ( J:42773 )

• ventral extension of the cricoid cartilage; severity is not increased in the double mutant compared to single mutant

abnormal thyroid cartilage morphology ( J:42773 )

• abnormal extensions of both anterior horns of the thyroid cartilage which are fused to the hyoid bone in all mutants

abnormal thoracic vertebrae morphology ( J:42773 )

abnormal cervical vertebrae morphology ( J:42773 )

• 100% penetrance of cervical vertebrae defects

cervical vertebral fusion ( J:42773 )

• 3 of 5 show C2-C3 fusion

abnormal lumbar vertebrae morphology ( J:42773 )

cardiovascular system

right aortic arch ( J:42773 )

• low penetrance (1 of 6 mutants)

absent stapedial artery ( J:42773 )

• low penetrance of agenesis of the stapedial artery (2 of 6 mutants)

craniofacial

abnormal alisphenoid bone morphology ( J:42773 )

• 80% exhibit a bilateral pterygoquadrate element (a cartilaginous or osseous extension fusing the incus to the alisphenoid bone)

absent temporal bone zygomatic process ( J:42773 )

• 3 of 4 show bilateral agenesis of the zygomatic process of the squamosal bone

abnormal incus morphology ( J:42773 )

• 80% exhibit a bilateral pterygoquadrate element (a cartilaginous or osseous extension fusing the incus to the alisphenoid bone)

endocrine/exocrine glands

ectopic thymus ( J:42773 )

• low penetrance of the presence of a cervical thymus (1 of 6 mutants)

absent Harderian gland ( J:42773 )

• low penetrance of bilateral Harderian gland agenesis (1 of 6 mutants)

hearing/vestibular/ear

absent stapedial artery ( J:42773 )

• low penetrance of agenesis of the stapedial artery (2 of 6 mutants)

abnormal incus morphology ( J:42773 )

• 80% exhibit a bilateral pterygoquadrate element (a cartilaginous or osseous extension fusing the incus to the alisphenoid bone)

hematopoietic system

ectopic thymus ( J:42773 )

• low penetrance of the presence of a cervical thymus (1 of 6 mutants)

immune system

ectopic thymus ( J:42773 )

• low penetrance of the presence of a cervical thymus (1 of 6 mutants)

respiratory system

abnormal cricoid cartilage morphology ( J:42773 )

• ventral extension of the cricoid cartilage; severity is not increased in the double mutant compared to single mutant

abnormal thyroid cartilage morphology ( J:42773 )

• abnormal extensions of both anterior horns of the thyroid cartilage which are fused to the hyoid bone in all mutants