Phenotypes Associated with This Genotype

Genotype
MGI:3766084

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

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

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