Phenotypes associated with this allele

• Allele Symbol: Rarg^tm4Ipc
• Allele Name: targeted mutation 4, Pierre Chambon
• Allele ID: MGI:2445724
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rarg^tm4Ipc/Rarg^tm4Ipc	involves: 129	MGI:2446545
ht2	Rarg^tm4Ipc/Rarg^+	involves: 129	MGI:2446553
cx3	Rarg^tm4Ipc/Rarg^tm4Ipc Rxra^tm2Ipc/Rxra^tm2Ipc	involves: 129	MGI:3758085
cx4	Rarb^tm1Mma/Rarb^tm1Mma Rarg^tm4Ipc/Rarg^tm4Ipc	involves: 129S2/SvPas	MGI:3758084
cx5	Rara^tm1Ipc/Rara^tm1Ipc Rarg^tm4Ipc/Rarg^tm4Ipc	involves: 129/Sv * 129S2/SvPas	MGI:3758079

Genotype
MGI:2446545

hm1

• Allelic Composition: Rarg^tm4Ipc/Rarg^tm4Ipc
• Genetic Background: involves: 129

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

growth/size/body

postnatal growth retardation ( J:42773 )

• by 3 weeks of age, mutants are on average 10% smaller than wild-type, with a few more than 25% smaller

respiratory system

abnormal cricoid cartilage morphology ( J:42773 )

• ventral extension of the cricoid cartilage in 16 of 24 mutants

skeleton

abnormal cricoid cartilage morphology ( J:42773 )

• ventral extension of the cricoid cartilage in 16 of 24 mutants

abnormal cervical vertebrae morphology ( J:42773 )

• 12% of mutants show defects in cervical vertebrae consisting of malformations of C2 (bifidus, dyssymphysis, enlarged neural arch, fusion with C3) and partial agenesis of the body of C4 and C7 to C6 transformation

Genotype
MGI:2446553

ht2

• Allelic Composition: Rarg^tm4Ipc/Rarg⁺
• Genetic Background: involves: 129

respiratory system

abnormal cricoid cartilage morphology ( J:42773 )

• ventral extension of the cricoid cartilage is present in 2 of 11 heterozygotes

skeleton

abnormal cricoid cartilage morphology ( J:42773 )

• ventral extension of the cricoid cartilage is present in 2 of 11 heterozygotes

Genotype
MGI:3758085

cx3

• Allelic Composition: Rarg^tm4Ipc/Rarg^tm4Ipc; Rxra^tm2Ipc/Rxra^tm2Ipc
• Genetic Background: involves: 129

vision/eye

abnormal anterior eye segment morphology ( J:42773 )

• increase in the severity of the anterior eye segment malformations seen in single Rxra^tm2Ipc homozygotes

Genotype
MGI:3758084

cx4

• Allelic Composition: Rarb^tm1Mma/Rarb^tm1Mma; Rarg^tm4Ipc/Rarg^tm4Ipc
• Genetic Background: involves: 129S2/SvPas

renal/urinary system

single kidney ( J:42773 )

• 3 of 4 unilaterally lack a kidney

Genotype
MGI:3758079

cx5

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

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)