Phenotypes associated with this allele

• Allele Symbol: Rarb⁺
• Allele Name: wild type
• Allele ID: MGI:1931290
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Rarb^tm1Mma/Rarb^+	involves: 129S2/SvPas * C57BL/6	MGI:3766009
cx2	Rara^tm1Ipc/Rara^tm1Ipc Rarb^tm1Ipc/Rarb^+	involves: 129S2/SvPas	MGI:3033851
cx3	Rara^tm1Ipc/Rara^+ Rarb^tm1Ipc/Rarb^+	involves: 129S2/SvPas	MGI:6382193
cx4	Rarb^tm1Mma/Rarb^+ Rarg^tm1Ipc/Rarg^tm1Ipc	involves: 129S2/SvPas * C57BL/6	MGI:3766084
cx5	Rara^tm1Ipc/Rara^tm1Ipc Rarb^tm1Mma/Rarb^+	involves: 129S2/SvPas * C57BL/6	MGI:3766015
cx6	Rarb^tm1Mma/Rarb^+ Rarg^tm1Ipc/Rarg^+	involves: 129S2/SvPas * C57BL/6	MGI:3766086

Genotype
MGI:3766009

ht1

• Allelic Composition: Rarb^tm1Mma/Rarb⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

vision/eye

absent metoptic pillar ( J:43344 )

• 7 of 50 mutants exhibit agenesis of the metoptic pillar

narrow eye opening ( J:43344 )

• display a mild reduction of the palpebral aperture at E14.5

craniofacial

absent metoptic pillar ( J:43344 )

• 7 of 50 mutants exhibit agenesis of the metoptic pillar

skeleton

absent metoptic pillar ( J:43344 )

• 7 of 50 mutants exhibit agenesis of the metoptic pillar

Genotype
MGI:3033851

cx2

• Allelic Composition: Rara^tm1Ipc/Rara^tm1Ipc; Rarb^tm1Ipc/Rarb⁺
• Genetic Background: involves: 129S2/SvPas

cardiovascular system

persistent right dorsal aorta ( J:21034 )

• at E18.5 the right dorsal aortic root which is normally lost persists (2 out of 3)

absent fetal ductus arteriosus ( J:21034 )

• the normal fetal connection between the aorta and the main pulmonary artery (ductus arteriosus) is also absent in mice with persistent truncus arteriosus and is thought to be secondary to this condition

persistent truncus arteriosus ( J:21034 )

• this defect was detected in 2 of 4 mutants at E18.5

perimembraneous ventricular septal defect ( J:21034 )

• in mice with persistent truncus arteriosus defects are also found in the membranous portion of the ventricular septum but not in the muscular portion of the septum at E18.5 (3 out of 4)

renal/urinary system

renal glomerulus hypertrophy ( J:21034 )

• abnormally large glomeruli are found in the cortical region of hypoplastic kidneys

absent nephrogenic zone ( J:21034 )

• the nephrogenic zone of the cortex is absent in hypoplastic kidneys

renal hypoplasia ( J:21034 )

• kidneys are smaller than normal due to bilateral hypoplasia; however, division of the kidney into cortical and medullary regions is still present at E18.5 (3 out of 4)

• kidney hypoplasia is less severe than in double homozygous mice

abnormal renal tubule morphology ( J:21034 )

• abnormally convoluted tubules are found in the cortical region of hypoplastic kidneys

ectopic kidney ( J:21034 )

• hypoplastic kidneys are often ectopic being located in the lower lumbar or sacral regions rather than in the normal upper lumbar site

respiratory system

abnormal respiratory system morphology ( J:21034 )

• multiple defects in tissues derived from the primitive thoracic foregut and associated later mesoderm including the lung parenchyma, tracheobronchial tree, larynx, pharynx, and esophagus were found at E18.5.

• the morphology of the cartilages that make up the larynx and trachea were not examined in these mice

pulmonary hypoplasia ( J:21034 )

• the right and left lungs are hypoplastic (2 out of 4)

• unlike in double homozygous mice the left lung is present but hypoplastic

Genotype
MGI:6382193

cx3

• Allelic Composition: Rara^tm1Ipc/Rara⁺; Rarb^tm1Ipc/Rarb⁺
• Genetic Background: involves: 129S2/SvPas

craniofacial

abnormal alisphenoid bone morphology ( J:21009 )

• frequently fused to the incus, which is continuous with a rostrally oriented cartilaginous or osseous rod

abnormal incus morphology ( J:21009 )

• continuous with a rostrally oriented cartilaginous or osseous rod, which is frequently fused with the alisphenoid bone

abnormal incus short process morphology ( J:21009 )

• larger than in wild-type mice

endocrine/exocrine glands

abnormal Harderian gland development ( J:21009 )

• bilateral absence of the epithelial rudiments of all intraorbital glands (including lachrymal and Harderian glands) in all mice at E18.5

• however, the stroma is present

hearing/vestibular/ear

abnormal incus morphology ( J:21009 )

• continuous with a rostrally oriented cartilaginous or osseous rod, which is frequently fused with the alisphenoid bone

abnormal incus short process morphology ( J:21009 )

• larger than in wild-type mice

limbs/digits/tail

short fibula ( J:21009 )

• severe in one mouse, milder in two mice

skeleton

abnormal alisphenoid bone morphology ( J:21009 )

• frequently fused to the incus, which is continuous with a rostrally oriented cartilaginous or osseous rod

abnormal incus morphology ( J:21009 )

• continuous with a rostrally oriented cartilaginous or osseous rod, which is frequently fused with the alisphenoid bone

abnormal incus short process morphology ( J:21009 )

• larger than in wild-type mice

short fibula ( J:21009 )

• severe in one mouse, milder in two mice

vision/eye

absent nasolacrimal duct ( J:21009 )

• in all mice

Genotype
MGI:3766084

cx4

• Allelic Composition: Rarb^tm1Mma/Rarb⁺; Rarg^tm1Ipc/Rarg^tm1Ipc
• Genetic Background: involves: 129S2/SvPas * C57BL/6

skeleton

abnormal skeleton morphology ( J:43344 )

• 100% of mutants show skeletal malformations

abnormal basioccipital bone morphology ( J:43344 )

• 2 of 14 (14%) mutants exhibit a posterior tubercle on the basioccipital bone

absent metoptic pillar ( J:43344 )

• 11 of 14 mutants exhibit agenesis of the metoptic pillar

abnormal tracheal cartilage morphology ( J:43344 )

• 100% of mutants show tracheal cartilage malformations

cricoid and tracheal cartilage fusion ( J:43344 )

• 11 of 14 (79%) of mutants show cricoid cartilage fused to tracheal rings

abnormal vertebrae morphology ( J:43344 )

fusion of atlas and occipital bones ( J:43344 )

• 2 of 14 (14%) mutants show fusion of the basioccipital with C1-AA

fusion of atlas and odontoid process ( J:43344 )

• 2 of 14 (14%) mutants show fusion of C1-AA with C2 dens

split cervical axis ( J:43344 )

• 12 of 14 (86%) of mutants have a bifid C2

fusion of vertebral arches ( J:43344 )

• 1 of 14 (7%) mutants show fusions of neural arches of C2 and C3

vertebral transformation ( J:43344 )

thoracic vertebral transformation ( J:43344 )

• 5 of 14 (36%) mutants show anterior transformation of T8 to T7

cervical vertebral transformation ( J:43344 )

• 2 of 14 (14%) mutants show anterior transformation of C2 to C1

vision/eye

absent metoptic pillar ( J:43344 )

• 11 of 14 mutants exhibit agenesis of the metoptic pillar

persistent hyperplastic primary vitreous ( J:43344 )

• E18.5 mutants show a bilateral persistent hyperplastic primary vitreous

narrow eye opening ( J:43344 )

• the palpebral aperture is reduced to a narrow slit in all E14.5 mutants

craniofacial

abnormal basioccipital bone morphology ( J:43344 )

• 2 of 14 (14%) mutants exhibit a posterior tubercle on the basioccipital bone

absent metoptic pillar ( J:43344 )

• 11 of 14 mutants exhibit agenesis of the metoptic pillar

fusion of atlas and occipital bones ( J:43344 )

• 2 of 14 (14%) mutants show fusion of the basioccipital with C1-AA

endocrine/exocrine glands

absent Harderian gland ( J:43344 )

• agenesis of the Harderian glands is seen at E18.5

respiratory system

abnormal tracheal cartilage morphology ( J:43344 )

• 100% of mutants show tracheal cartilage malformations

cricoid and tracheal cartilage fusion ( J:43344 )

• 11 of 14 (79%) of mutants show cricoid cartilage fused to tracheal rings

Genotype
MGI:3766015

cx5

• Allelic Composition: Rara^tm1Ipc/Rara^tm1Ipc; Rarb^tm1Mma/Rarb⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6

skeleton

abnormal skeleton morphology ( J:43344 )

• 100% of mutants show skeletal malformations

abnormal temporal bone squamous part morphology ( J:43344 )

• 11 of 14 mutants exhibit malformed squamosal bone

abnormal incus morphology ( J:43344 )

• 7 of 14 mutants exhibit a pterygoquadrate element

abnormal thyroid cartilage morphology ( J:43344 )

• 1 of 15 (7%) mutants shows thyroid cartilage fused to hyoid bone

abnormal tracheal cartilage morphology ( J:43344 )

• 3 of 15 (20%) mutants show tracheal cartilage malformations

abnormal vertebrae morphology ( J:43344 )

fusion of atlas and odontoid process ( J:43344 )

• 8 of 15 (53%) mutants show fusion of C1-AA with C2 dens

split cervical atlas ( J:43344 )

• 3 of 15 (20%) mutants show a bifid C1

split cervical axis ( J:43344 )

• 5 of 15 (33%) mutants show a bifid C2

fusion of vertebral arches ( J:43344 )

• 2 of 15 (13%) mutants show fusions of neural arches of C2 and C3

vertebral transformation ( J:43344 )

thoracic vertebral transformation ( J:43344 )

• 6 of 15 (40%) mutants show anterior transformation of L1 to T14

cervical vertebral transformation ( J:43344 )

• 3 of 15 (20%) mutants show anterior transformation of C2 to C1

hearing/vestibular/ear

abnormal incus morphology ( J:43344 )

• 7 of 14 mutants exhibit a pterygoquadrate element

craniofacial

abnormal temporal bone squamous part morphology ( J:43344 )

• 11 of 14 mutants exhibit malformed squamosal bone

abnormal incus morphology ( J:43344 )

• 7 of 14 mutants exhibit a pterygoquadrate element

respiratory system

abnormal thyroid cartilage morphology ( J:43344 )

• 1 of 15 (7%) mutants shows thyroid cartilage fused to hyoid bone

abnormal tracheal cartilage morphology ( J:43344 )

• 3 of 15 (20%) mutants show tracheal cartilage malformations

Genotype
MGI:3766086

cx6

• Allelic Composition: Rarb^tm1Mma/Rarb⁺; Rarg^tm1Ipc/Rarg⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6

craniofacial

absent metoptic pillar ( J:43344 )

• 4 of 12 mutants exhibit agenesis of the metoptic pillar

vision/eye

absent metoptic pillar ( J:43344 )

• 4 of 12 mutants exhibit agenesis of the metoptic pillar

persistent hyperplastic primary vitreous ( J:43344 )

• 5 of 6 E18.5 mutants show a bilateral persistent hyperplastic primary vitreous

skeleton

absent metoptic pillar ( J:43344 )

• 4 of 12 mutants exhibit agenesis of the metoptic pillar