Phenotypes Associated with This Genotype

Genotype
MGI:3766010

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

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

growth/size/body

decreased body weight ( J:43344 )

• weight is normal at birth but decreases by about 20% in the female and 25% in male by P20

postnatal growth retardation ( J:43344 )

skeleton

abnormal skeleton morphology ( J:43344 )

• 36% of mutants exhibit malformed skeletons

abnormal basioccipital bone morphology ( J:43344 )

• 4% of mutants display a ventral median tubercle at the caudal edge of the basioccipital bone

absent metoptic pillar ( J:43344 )

• 15 of 50 mutants exhibit agenesis of the metoptic pillar

fusion of atlas and occipital bones ( J:43344 )

• basioccipital bone eventually fused with the anterior arch of the atlas

fusion of atlas and odontoid process ( J:43344 )

• 15 of 75 (20%) mutants show fusion of C1-AA with C2 dens

split cervical atlas ( J:43344 )

• 2 of 75 (3%) mutants show a bifid C1

split cervical axis ( J:43344 )

• 5 of 75 (7%) mutants show a bifid C2

abnormal vertebral arch morphology ( J:43344 )

• 10% of mutants display malformations of the neural arches of the first three cervical vertebrae

• 2 of 75 (3%) show dyssymphysis of C1 neural arch

fusion of vertebral arches ( J:43344 )

• 2 of 75 (3%) mutants show fusions of neural arches of C2 and C3

vertebral transformation ( J:43344 )

• mutants display some homeotic transformations

cervical vertebral transformation ( J:43344 )

• 11% of mutants exhibit posterior transformation of C7 to T1

vision/eye

absent metoptic pillar ( J:43344 )

• 15 of 50 mutants exhibit agenesis of the metoptic pillar

cataract ( J:43344 )

• about 8% of adults have cataracts

• cataracts are characterized by a disruption of the lens basement membrane and disorganization of the lens fibers in contact with the PHPV

persistent hyperplastic primary vitreous ( J:43344 )

• 86% of mutants exhibit a persistent and hyperplastic primary vitreous body (PHPV)

persistence of hyaloid vascular system ( J:43344 )

• the mutants that have a retrolenticular mass within the vitreous body, contain a persistent hyaloid artery and vein

narrow eye opening ( J:43344 )

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

retina fold ( J:43344 )

• congenital folds of the retina are seen in 4 of 10 mutants at E18.5

vitreous body deposition ( J:43344 )

• 85% of mutants exhibit an abnormal retrolenticular mass of pigmented tissue within the vitreous body; this mass exhibits a large base adherent to the lens and contains a persistent hyaloid artery and vein

craniofacial

abnormal basioccipital bone morphology ( J:43344 )

• 4% of mutants display a ventral median tubercle at the caudal edge of the basioccipital bone

absent metoptic pillar ( J:43344 )

• 15 of 50 mutants exhibit agenesis of the metoptic pillar

fusion of atlas and occipital bones ( J:43344 )

• basioccipital bone eventually fused with the anterior arch of the atlas

limbs/digits/tail

limbs/digits/tail phenotype ( J:43344 )

N • limbs appear normal

nervous system

nervous system phenotype ( J:43344 )

N • nervous system appears normal

respiratory system

abnormal lung development ( J:124466 )

• mutant neonates display premature subdivision (septation) of the gas-exchange saccules of the immature lung and form alveoli twice as fast as wild-type mice during the period of septation but not thereafter

abnormal lung alveolus development ( J:124466 )

• between P4 and P21, the rate of alveolus formation is 2x faster in mutant than in wild-type mice; however, similar rates are observed between P21 and P68

• no significant differences in alveolar surface area are observed at any age

abnormal pulmonary alveolar sac morphology ( J:124466 )

• at P4 and P21, mutants display significantly fewer large alveolar saccules than age-matched wild-type controls