Phenotypes Associated with This Genotype

Genotype
MGI:3758079

• Allelic Composition: Rara^tm1Ipc/Rara^tm1Ipc; Rarg^tm4Ipc/Rarg^tm4Ipc
• Genetic Background: involves: 129/Sv * 129S2/SvPas

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

mortality/aging

perinatal lethality ( J:42773 )

renal/urinary system

renal hypoplasia ( J:42773 )

• 5 of 6 show bilateral kidney hypoplasia

absent kidney ( J:42773 )

• 1 of 6 shows kidney agenesis

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 )

• penetrance of a unilateral pterygoquadrate element (a cartilaginous or osseous extension fusing the incus to the alisphenoid bone) is similar to that seen in single homozygous Rara mutants (3 of 16 mutants)

absent temporal bone zygomatic process ( J:42773 )

• 6 of 10 show bilateral agenesis of the zygomatic process of the squamosal bone

abnormal hyoid bone morphology ( J:42773 )

• low penetrance of fusion between the greater horns of thyroid cartilage and the hyoid bone (1 of 6)

abnormal incus morphology ( J:42773 )

• penetrance of a unilateral pterygoquadrate element (a cartilaginous or osseous extension fusing the incus to the alisphenoid bone) is similar to that seen in single homozygous Rara mutants (3 of 16 mutants)

abnormal cricoid cartilage morphology ( J:42773 )

• the ventral extension of the cricoid cartilage is markedly longer in the double mutant than in either single mutant

abnormal thyroid cartilage morphology ( J:42773 )

• low penetrance of fusion between the greater horns of thyroid cartilage and the hyoid bone (1 of 6)

abnormal thoracic vertebrae morphology ( J:42773 )

abnormal cervical vertebrae morphology ( J:42773 )

• 100% penetrance of cervical vertebrae defects

cervical vertebral fusion ( J:42773 )

• 7 of 9 show C2-C3 fusion

• 5 of 9 show C1-C2 fusion

abnormal lumbar vertebrae morphology ( J:42773 )

cardiovascular system

right aortic arch ( J:42773 )

• low penetrance (1 of 6 mutants)

persistent truncus arteriosus ( J:42773 )

• low penetrance (1 of 6 mutants)

craniofacial

abnormal alisphenoid bone morphology ( J:42773 )

• penetrance of a unilateral pterygoquadrate element (a cartilaginous or osseous extension fusing the incus to the alisphenoid bone) is similar to that seen in single homozygous Rara mutants (3 of 16 mutants)

absent temporal bone zygomatic process ( J:42773 )

• 6 of 10 show bilateral agenesis of the zygomatic process of the squamosal bone

abnormal hyoid bone morphology ( J:42773 )

• low penetrance of fusion between the greater horns of thyroid cartilage and the hyoid bone (1 of 6)

abnormal incus morphology ( J:42773 )

• penetrance of a unilateral pterygoquadrate element (a cartilaginous or osseous extension fusing the incus to the alisphenoid bone) is similar to that seen in single homozygous Rara mutants (3 of 16 mutants)

hearing/vestibular/ear

abnormal incus morphology ( J:42773 )

• penetrance of a unilateral pterygoquadrate element (a cartilaginous or osseous extension fusing the incus to the alisphenoid bone) is similar to that seen in single homozygous Rara mutants (3 of 16 mutants)

respiratory system

abnormal cricoid cartilage morphology ( J:42773 )

• the ventral extension of the cricoid cartilage is markedly longer in the double mutant than in either single mutant

abnormal thyroid cartilage morphology ( J:42773 )

• low penetrance of fusion between the greater horns of thyroid cartilage and the hyoid bone (1 of 6)

growth/size/body

abnormal hyoid bone morphology ( J:42773 )

• low penetrance of fusion between the greater horns of thyroid cartilage and the hyoid bone (1 of 6)