Phenotypes Associated with This Genotype

Genotype
MGI:3766075

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

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

mortality/aging

perinatal lethality, complete penetrance ( J:43344 )

• die within at most 12 hours following cesarian delivery at E18.5

skeleton

abnormal skeleton morphology ( J:43344 )

• 100% of mutants show skeletal malformations

abnormal basioccipital bone morphology ( J:43344 )

• 5 of 13 (38%) mutants exhibit a posterior tubercle on the basioccipital bone

absent metoptic pillar ( J:43344 )

• 12 of 13 mutants exhibit agenesis of the metoptic pillar

ethmoturbinate hypoplasia ( J:43344 )

• 100% of mutants exhibit hypoplasia of ethmoturbinates

abnormal sternum morphology ( J:43344 )

• 1 of 13 (8%) mutants shows sternum malformations

abnormal vertebrae morphology ( J:43344 )

fusion of atlas and occipital bones ( J:43344 )

• 3 of 13 (23) mutants show fusion of the basioccipital with C1-AA

fusion of atlas and odontoid process ( J:43344 )

• 5 of 13 (38%) mutants show fusion of C1-AA with C2 dens

split cervical axis ( J:43344 )

• 100% of mutants have a bifid C2

abnormal vertebral arch morphology ( J:43344 )

• 100% of mutants show dyssymphysis of C1 neural arch

fusion of vertebral arches ( J:43344 )

• 6 of 13 (46%) mutants show fusions of neural arches of C2 and C3

vertebral transformation ( J:43344 )

thoracic vertebral transformation ( J:43344 )

• 4 of 13 (31%) mutants show anterior transformation of T8 to T7

cervical vertebral transformation ( J:43344 )

• 5 of 13 (38%) mutants show anterior transformation of C2 to C1

abnormal cartilage morphology ( J:43344 )

abnormal tracheal cartilage morphology ( J:43344 )

• 100% of mutants show tracheal cartilage malformations

cricoid and tracheal cartilage fusion ( J:43344 )

• 100% of mutants show cricoid cartilage fused to tracheal rings

vision/eye

absent metoptic pillar ( J:43344 )

• 12 of 13 mutants exhibit agenesis of the metoptic pillar

optic disk coloboma ( J:43344 )

• coloboma of the optic disk is seen in some mutants

abnormal iris stroma morphology ( J:43344 )

• agenesis of the iris stroma is seen at E18.5

iris coloboma ( J:43344 )

• coloboma of the iris is seen in one mutant at E14.5

abnormal conjunctival sac morphology ( J:43344 )

• small conjunctival sac; bilateral

abnormal cornea stroma morphology ( J:43344 )

• agenesis of the corneal stroma at E14.5 and E18.5

absent eye anterior chamber ( J:43344 )

• agenesis of the anterior chamber is seen at E18.5

abnormal lens morphology ( J:43344 )

• the equatorial cells are missing in all lenses at E16.5 and E18.5

• lens degeneration is seen in all E18.5 mutants

abnormal lens fiber morphology ( J:43344 )

• the secondary fibers within the lens show features of degeneration, such as swelling and vacuolation of the cytoplasm

ventral rotation of lens ( J:43344 )

narrow eye opening ( J:43344 )

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

absent nasolacrimal duct ( J:43344 )

• agenesis of the naso-lacrimal duct is seen at E18.5

abnormal retina morphology ( J:43344 )

• shortening of the ventral retina in all E14.5 mutants that is associated with a ventral rotation of the lens

abnormal retina neuronal layer morphology ( J:43344 )

• in 3 of 5 E14.5 mutants, vacuoles are seen between the neuroblasts located at the interface of the outer nuclear layer (ONL) and inner nuclear layer (INL)

absent retina inner plexiform layer ( J:43344 )

• at E18.5, the IPL is essentially lacking

retina fold ( J:43344 )

• neural retina shows extensive foldings

abnormal vitreous body morphology ( J:43344 )

• the primary vitreous body completely fills the space between the retina and the lens due to extensive cell proliferation

• the secondary vitreous does not form

persistent hyperplastic primary vitreous ( J:43344 )

• complete penetrance of persistent hyperplastic primary vitreous at E18.5

absent sclera ( J:43344 )

• absent sclera

cardiovascular system

abnormal artery morphology ( J:43344 )

• about 25% of mutants exhibit abnormalities of the great arteries derived from the 3rd, 4th, and 6th aortic arches

craniofacial

abnormal basioccipital bone morphology ( J:43344 )

• 5 of 13 (38%) mutants exhibit a posterior tubercle on the basioccipital bone

absent metoptic pillar ( J:43344 )

• 12 of 13 mutants exhibit agenesis of the metoptic pillar

fusion of atlas and occipital bones ( J:43344 )

• 3 of 13 (23) mutants show fusion of the basioccipital with C1-AA

ethmoturbinate hypoplasia ( J:43344 )

• 100% of mutants exhibit hypoplasia of ethmoturbinates

digestive/alimentary system

short sublingual duct ( J:43344 )

• 100% of mutants show shortening of the sublingual duct

endocrine/exocrine glands

short sublingual duct ( J:43344 )

• 100% of mutants show shortening of the sublingual duct

absent Harderian gland ( J:43344 )

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

renal/urinary system

hydronephrosis ( J:43344 )

• 3 of 7 mutants exhibit hydronephrosis, most likely caused by abnormalities of the caudal ureters

abnormal ureter morphology ( J:43344 )

• 3 of 7 mutants show agenesis of the caudal ureter and 1 of 7 mutants show an ectopic ureteral opening

ectopic ureter ( J:43344 )

• 1 of 7 mutants show an ectopic ureteral opening

respiratory system

ethmoturbinate hypoplasia ( J:43344 )

• 100% of mutants exhibit hypoplasia of ethmoturbinates

abnormal tracheal cartilage morphology ( J:43344 )

• 100% of mutants show tracheal cartilage malformations

cricoid and tracheal cartilage fusion ( J:43344 )

• 100% of mutants show cricoid cartilage fused to tracheal rings

nervous system

optic disk coloboma ( J:43344 )

• coloboma of the optic disk is seen in some mutants

growth/size/body

ethmoturbinate hypoplasia ( J:43344 )

• 100% of mutants exhibit hypoplasia of ethmoturbinates