Phenotypes Associated with This Genotype

Genotype
MGI:3033878

cx3

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

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

mortality/aging

perinatal lethality ( J:21034 )

neonatal lethality, complete penetrance ( J:21009 )

• mice delivered by Cesarean survive less than 12 hours

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

cricoid and tracheal cartilage fusion ( J:21034 )

• at E18.5 the cricoid cartilage is abnormally fused to the tracheal rings (16 out of 16)

absent tracheal cartilage rings ( J:21034 )

• at E18.5 the tracheal cartilage rings are absent and are replaced by ventral cartilage and cartilaginous nodules (16 out of 16)

abnormal sternum morphology ( J:21009 )

• in 6 of 16 mice

rib fusion ( J:21009 )

• in 3 of 16 mice

abnormal cervical vertebrae morphology ( J:21009 )

• fusion of cervical neural arches in 5 of 16 mice

• dyssymphysis of cervical neural arches in 10 of 16 mice

abnormal cervical atlas morphology ( J:21009 )

• in 10 of 16 mice

fusion of atlas and occipital bones ( J:21009 )

• in 3 of 16 mice

abnormal cervical axis morphology ( J:21009 )

• in 4 of 16 mice

cervical vertebral transformation ( J:21009 )

• C2 to C1 in 5 of 16 mice

• C6 to C5 in 4 of 16 mice

• C7 to C6 in 4 of 16 mice

• C7 to T1 or T2 in 6 of 16 mice

digestive/alimentary system

abnormal sublingual duct morphology ( J:21009 )

• frequently bilateral cystic epithelial formations within the parenchyma

short sublingual duct ( J:21009 )

• shortened, opened at the caudal end of the second lower molar

abnormal submandibular duct morphology ( J:21009 )

• shortened, opened at the caudal end of the lower incisor

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

fusion of atlas and occipital bones ( J:21009 )

• in 3 of 16 mice

endocrine/exocrine glands

abnormal sublingual duct morphology ( J:21009 )

• frequently bilateral cystic epithelial formations within the parenchyma

short sublingual duct ( J:21009 )

• shortened, opened at the caudal end of the second lower molar

abnormal submandibular duct morphology ( J:21009 )

• shortened, opened at the caudal end of the lower incisor

abnormal lacrimal 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

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

vision/eye

abnormal lacrimal 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

absent nasolacrimal duct ( J:21009 )

• in all mice

respiratory system

cricoid and tracheal cartilage fusion ( J:21034 )

• at E18.5 the cricoid cartilage is abnormally fused to the tracheal rings (16 out of 16)

fused bronchial cartilage rings ( J:21034 )

• detailed examination revealed that the cartilages in the caudal portion of the stem bronchi are fused

absent tracheal cartilage rings ( J:21034 )

• at E18.5 the tracheal cartilage rings are absent and are replaced by ventral cartilage and cartilaginous nodules (16 out of 16)