Phenotypes Associated with This Genotype

Genotype
MGI:6382285

cx5

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

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

skeleton

abnormal skeleton morphology ( J:21009 )

• in all mice

abnormal neurocranium morphology ( J:21009 )

• a third cartilaginous pillar is fused ventrally to the basisphenoid bone to form a cartilaginous medial wall to the cavum epiptericum unlike in wild-type mice

• shortened braincase and compression by intracranial ectopic cartilaginous and bony nodules in non-exencephalic mice at E18.5

basisphenoid bone foramen ( J:21009 )

• never closes

short frontal bone ( J:21009 )

abnormal alisphenoid bone morphology ( J:21009 )

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

abnormal presphenoid bone morphology ( J:21009 )

abnormal upper incisor morphology ( J:21009 )

• dysplasia in some mice

absent upper incisors ( J:21009 )

• in some mice

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

abnormal nasal septum cartilage morphology ( J:21009 )

• duplication of cartilaginous nasal septum

abnormal sternum morphology ( J:21009 )

• in 3 of 11 mice

rib fusion ( J:21009 )

• in 2 of 11 mice

abnormal cervical vertebrae morphology ( J:21009 )

• fusion of cervical neural arches in all mice

• dyssymphysis of cervical neural arches in 10 of 11 mice

abnormal cervical atlas morphology ( J:21009 )

• in 9 of 11 mice

fusion of atlas and occipital bones ( J:21009 )

• in 2 of 11 mice

abnormal cervical axis morphology ( J:21009 )

• in 5 of 11 mice

cervical vertebral transformation ( J:21009 )

• C2 to C1 in 7 of 11 mice

• C6 to C5 in 8 of 11 mice

• C7 to C6 in 8 of 11 mice

• C7 to T1 of T2 in 3 of 11 mice

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

nervous system

intracerebral hemorrhage ( J:21009 )

• in two exencephalic mice at E18.5

abnormal brain morphology ( J:21009 )

• secondary to increased intracranial pressure caused by shortened braincase and compression by intracranial ectopic cartilaginous and bony nodules in 2 of 5 mice at E18.5

abnormal folding of telencephalic vesicles ( J:21009 )

abnormal lateral ventricle morphology ( J:21009 )

• collapsed

abnormal brain commissure morphology ( J:21009 )

• failure of the rostral interhemispheric commissures (corpus callosum, hippocampal commissure and anterior commissure) in 2 of 5 mice at E18.5

abnormal cerebral hemisphere morphology ( J:21009 )

• small in two exencephalic mice at E18.5

absent cerebellum ( J:21009 )

• in two exencephalic mice at E18.5

absent hindbrain ( J:21009 )

• in two exencephalic mice at E18.5

abnormal meninges morphology ( J:21009 )

• ectopic cartilaginous and bony nodules at E18.5

vision/eye

corneal-lenticular stalk ( J:21009 )

• in 4 of 12 mice

failure of eyelid fusion ( J:21009 )

• in 4 of 12 mice

absent nasolacrimal duct ( J:21009 )

• in all mice

endocrine/exocrine glands

abnormal sublingual duct morphology ( J:21009 )

• bilateral (1 of 5 mice) or unilateral (3 of 5 mice) cystic epithelial formations within the parenchyma

absent sublingual duct ( J:21009 )

• bilateral in 1 of 5 mice, unilateral in 3 of 5 mice

short sublingual duct ( J:21009 )

• bilateral in 1 of 5 mice, unilateral in 3 of 5 mice

absent sublingual gland ( J:21009 )

• bilateral in 1 of 5 mice, unilateral in 3 of 5 mice

abnormal submandibular gland morphology ( J:21009 )

• bilateral cystic dysplasia in 2 of 5 mice

• shortened in all mice

absent Harderian gland ( J:21009 )

• in all mice

cardiovascular system

intracerebral hemorrhage ( J:21009 )

• in two exencephalic mice at E18.5

craniofacial

abnormal neurocranium morphology ( J:21009 )

• a third cartilaginous pillar is fused ventrally to the basisphenoid bone to form a cartilaginous medial wall to the cavum epiptericum unlike in wild-type mice

• shortened braincase and compression by intracranial ectopic cartilaginous and bony nodules in non-exencephalic mice at E18.5

basisphenoid bone foramen ( J:21009 )

• never closes

short frontal bone ( J:21009 )

fusion of atlas and occipital bones ( J:21009 )

• in 2 of 11 mice

abnormal alisphenoid bone morphology ( J:21009 )

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

abnormal presphenoid bone morphology ( J:21009 )

abnormal upper incisor morphology ( J:21009 )

• dysplasia in some mice

absent upper incisors ( J:21009 )

• in some mice

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

midline cleft upper lip ( J:21009 )

• cleft of the median upper lip in some mice

cleft palate ( J:21009 )

abnormal nasal septum cartilage morphology ( J:21009 )

• duplication of cartilaginous nasal septum

shortened head ( J:21009 )

digestive/alimentary system

cleft palate ( J:21009 )

abnormal sublingual duct morphology ( J:21009 )

• bilateral (1 of 5 mice) or unilateral (3 of 5 mice) cystic epithelial formations within the parenchyma

absent sublingual duct ( J:21009 )

• bilateral in 1 of 5 mice, unilateral in 3 of 5 mice

short sublingual duct ( J:21009 )

• bilateral in 1 of 5 mice, unilateral in 3 of 5 mice

absent sublingual gland ( J:21009 )

• bilateral in 1 of 5 mice, unilateral in 3 of 5 mice

abnormal submandibular gland morphology ( J:21009 )

• bilateral cystic dysplasia in 2 of 5 mice

• shortened in all mice

growth/size/body

abnormal upper incisor morphology ( J:21009 )

• dysplasia in some mice

absent upper incisors ( J:21009 )

• in some mice

midline cleft upper lip ( J:21009 )

• cleft of the median upper lip in some mice

cleft palate ( J:21009 )

abnormal nasal septum cartilage morphology ( J:21009 )

• duplication of cartilaginous nasal septum

shortened head ( J:21009 )

respiratory system

abnormal nasal septum cartilage morphology ( J:21009 )

• duplication of cartilaginous nasal septum