All Phenotypes Rarb<tm1Mma> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rarb^tm1Mma/Rarb^tm1Mma	involves: 129S2/SvPas * C57BL/6	MGI:3766010
ht2	Rarb^tm1Mma/Rarb⁺	involves: 129S2/SvPas * C57BL/6	MGI:3766009
cx3	Rarb^tm1Mma/Rarb^tm1Mma Rarg^tm4Ipc/Rarg^tm4Ipc	involves: 129S2/SvPas	MGI:3758084
cx4	Rara^tm1Ipc/Rara^tm1Ipc Rarb^tm1Mma/Rarb⁺	involves: 129S2/SvPas * C57BL/6	MGI:3766015
cx5	Rara^tm1Ipc/Rara⁺ Rarb^tm1Mma/Rarb^tm1Mma	involves: 129S2/SvPas * C57BL/6	MGI:3766017
cx6	Rara^tm1Ipc/Rara^tm1Ipc Rarb^tm1Mma/Rarb^tm1Mma	involves: 129S2/SvPas * C57BL/6	MGI:3766018
cx7	Rarb^tm1Mma/Rarb^tm1Mma Rarg^tm1Ipc/Rarg^tm1Ipc	involves: 129S2/SvPas * C57BL/6	MGI:3766075
cx8	Rarb^tm1Mma/Rarb⁺ Rarg^tm1Ipc/Rarg^tm1Ipc	involves: 129S2/SvPas * C57BL/6	MGI:3766084
cx9	Rarb^tm1Mma/Rarb⁺ Rarg^tm1Ipc/Rarg⁺	involves: 129S2/SvPas * C57BL/6	MGI:3766086
cx10	Rarb^tm1Mma/Rarb^tm1Mma Rarg^tm1Ipc/Rarg⁺	involves: 129S2/SvPas * C57BL/6	MGI:3766087

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rarb^tm1Mma mutation (0 available); any Rarb mutation (39 available)

♀	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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rarb^tm1Mma mutation (0 available); any Rarb mutation (39 available)

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

vision/eye

absent metoptic pillar ( J:43344 )

• 7 of 50 mutants exhibit agenesis of the metoptic pillar

narrow eye opening ( J:43344 )

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

craniofacial

absent metoptic pillar ( J:43344 )

• 7 of 50 mutants exhibit agenesis of the metoptic pillar

skeleton

absent metoptic pillar ( J:43344 )

• 7 of 50 mutants exhibit agenesis of the metoptic pillar

Allelic Composition	Rarb^tm1Mma/Rarb^tm1Mma Rarg^tm4Ipc/Rarg^tm4Ipc
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rarb^tm1Mma mutation (0 available); any Rarb mutation (39 available)
Rarg^tm4Ipc mutation (0 available); any Rarg mutation (151 available)

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

renal/urinary system

single kidney ( J:42773 )

• 3 of 4 unilaterally lack a kidney

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rara^tm1Ipc mutation (0 available); any Rara mutation (79 available)
Rarb^tm1Mma mutation (0 available); any Rarb mutation (39 available)

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

skeleton

abnormal skeleton morphology ( J:43344 )

• 100% of mutants show skeletal malformations

abnormal temporal bone squamous part morphology ( J:43344 )

• 11 of 14 mutants exhibit malformed squamosal bone

abnormal incus morphology ( J:43344 )

• 7 of 14 mutants exhibit a pterygoquadrate element

abnormal thyroid cartilage morphology ( J:43344 )

• 1 of 15 (7%) mutants shows thyroid cartilage fused to hyoid bone

abnormal tracheal cartilage morphology ( J:43344 )

• 3 of 15 (20%) mutants show tracheal cartilage malformations

abnormal vertebrae morphology ( J:43344 )

fusion of atlas and odontoid process ( J:43344 )

• 8 of 15 (53%) mutants show fusion of C1-AA with C2 dens

split cervical atlas ( J:43344 )

• 3 of 15 (20%) mutants show a bifid C1

split cervical axis ( J:43344 )

• 5 of 15 (33%) mutants show a bifid C2

fusion of vertebral arches ( J:43344 )

• 2 of 15 (13%) mutants show fusions of neural arches of C2 and C3

vertebral transformation ( J:43344 )

thoracic vertebral transformation ( J:43344 )

• 6 of 15 (40%) mutants show anterior transformation of L1 to T14

cervical vertebral transformation ( J:43344 )

• 3 of 15 (20%) mutants show anterior transformation of C2 to C1

hearing/vestibular/ear

abnormal incus morphology ( J:43344 )

• 7 of 14 mutants exhibit a pterygoquadrate element

craniofacial

abnormal temporal bone squamous part morphology ( J:43344 )

• 11 of 14 mutants exhibit malformed squamosal bone

abnormal incus morphology ( J:43344 )

• 7 of 14 mutants exhibit a pterygoquadrate element

respiratory system

abnormal thyroid cartilage morphology ( J:43344 )

• 1 of 15 (7%) mutants shows thyroid cartilage fused to hyoid bone

abnormal tracheal cartilage morphology ( J:43344 )

• 3 of 15 (20%) mutants show tracheal cartilage malformations

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

Find Mice

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

skeleton

abnormal skeleton morphology ( J:43344 )

• 9 of 15 (60%) of mutants exhibit skeletal abnormalities

abnormal sternum morphology ( J:43344 )

• 1 of 15 (7%) mutants show sternum malformations

fusion of atlas and odontoid process ( J:43344 )

• 8 of 15 (53%) mutants show fusion of C1-AA with C2 dens

split cervical axis ( J:43344 )

• 2 of 15 (13%) mutants show a bifid C2

cervical vertebral transformation ( J:43344 )

• 1 of 15 (7%) mutants show posterior transformation of C7 to T1

♀	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

embryo

absent Mullerian ducts ( J:43344 )

• 100% penetrance of agenesis of the Mullerian duct

cardiovascular system

abnormal pulmonary artery morphology ( J:43344 )

• aberrant origin of the right pulmonary artery from the ipsilateral arch of the aorta in 1 of 9 mutants and aberrant origin of the right pulmonary artery from ipsilateral common carotid in 1 of 9 mutants

right aortic arch ( J:43344 )

• seen in many mutants

absent stapedial artery ( J:43344 )

• unilateral and bilateral agenesis of the stapedial artery is seen in some fetuses

abnormal inferior vena cava morphology ( J:43344 )

• 2 of 6 mutants show a double inferior vena cava and 1 of 6 mutants exhibit absence of the inferior vena cava

persistent truncus arteriosus ( J:43344 )

• 100% penetrance at E14.5 and E18.5

abnormal conotruncus septation ( J:43344 )

• cono-truncal septum is absent in 100% of mutants

ventricular septal defect ( J:43344 )

• 100% penetrance of high ventricular septal defect

craniofacial

abnormal basioccipital bone morphology ( J:43344 )

• 8 of 8 (100%) mutants show a basioccipital without a hypoglossal nerve foramen

absent hypoglossal canal ( J:43344 )

fusion of atlas and occipital bones ( J:43344 )

• 1 of 8 (13%) mutants show fusion of the basioccipital with C1-AA

abnormal incus morphology ( J:43344 )

• 4 of 6 mutants exhibit a pterygoquadrate element

abnormal gonial bone morphology ( J:43344 )

• 3 of 6 mutants exhibit an abnormal gonial bone

abnormal stapes morphology ( J:43344 )

• 2 of 6 mutants exhibit imperforated stapes

absent stapes obturator foramen ( J:43344 )

• absence of the intercrural foramen of the stapes

digestive/alimentary system

absent anal canal ( J:43344 )

• agenesis of the anal canal; 100% penentrance

tracheoesophageal fistula ( J:43344 )

• 100% of mutants lack the esophagotracheal septum

short sublingual duct ( J:43344 )

• 2 of 6 mutants at E18.5 show shortening of the sublingual duct

endocrine/exocrine glands

short sublingual duct ( J:43344 )

• 2 of 6 mutants at E18.5 show shortening of the sublingual duct

abnormal thymus morphology ( J:43344 )

• mutants exhibit a persistent cervical thymus (a complete thymic lobe in the neck region) and/or the absence of one or both thymic lobes

persistent cervical thymus ( J:43344 )

hearing/vestibular/ear

absent stapedial artery ( J:43344 )

• unilateral and bilateral agenesis of the stapedial artery is seen in some fetuses

abnormal incus morphology ( J:43344 )

• 4 of 6 mutants exhibit a pterygoquadrate element

abnormal gonial bone morphology ( J:43344 )

• 3 of 6 mutants exhibit an abnormal gonial bone

abnormal stapes morphology ( J:43344 )

• 2 of 6 mutants exhibit imperforated stapes

absent stapes obturator foramen ( J:43344 )

• absence of the intercrural foramen of the stapes

hematopoietic system

abnormal thymus morphology ( J:43344 )

• mutants exhibit a persistent cervical thymus (a complete thymic lobe in the neck region) and/or the absence of one or both thymic lobes

persistent cervical thymus ( J:43344 )

immune system

abnormal thymus morphology ( J:43344 )

• mutants exhibit a persistent cervical thymus (a complete thymic lobe in the neck region) and/or the absence of one or both thymic lobes

persistent cervical thymus ( J:43344 )

muscle

diaphragmatic hernia ( J:43344 )

• 3 of 6 mutants at E18.5 exhibit diaphragmatic hernia

nervous system

abnormal hypoglossal nerve morphology ( J:43344 )

• lack the foramen of the hypoglossal nerve

renal/urinary system

hydronephrosis ( J:43344 )

• 5 of 6 mutants exhibit hydronephrosis, probably secondary to ectopic ureteral openings or involution of the caudal ureter

renal hypoplasia ( J:43344 )

• 100% penetrance

abnormal ureter morphology ( J:43344 )

• 3 of 6 mutants exhibit agenesis of the caudal ureter at E18.5

ectopic ureter ( J:43344 )

• all mutants at E14.5 and 4 of 6 mutants at E18.5 exhibit ectopic ureteral openings

reproductive system

absent oviduct ( J:43344 )

• agenesis of the oviduct

absent uterus ( J:43344 )

• agenesis of the uterus

absent cranial vagina ( J:43344 )

• agenesis of the cranial vagina

respiratory system

tracheoesophageal fistula ( J:43344 )

• 100% of mutants lack the esophagotracheal septum

abnormal arytenoid cartilage morphology ( J:43344 )

• 100% of mutants have a misshapen arytenoid cartilage

abnormal cricoid cartilage morphology ( J:43344 )

• 100% of mutants have a misshapen cricoid cartilage

abnormal thyroid cartilage morphology ( J:43344 )

• 7 of 8 (88%) mutants show a thyroid cartilage fused to hyoid bone

• 100% of mutants have a misshapen thyroid cartilage

pulmonary hypoplasia ( J:43344 )

• lung agenesis or hypoplasia

abnormal tracheal cartilage morphology ( J:43344 )

• 100% of mutants have tracheal cartilage malformations

skeleton

abnormal skeleton morphology ( J:43344 )

• 100% of mutants show skeletal malformations

abnormal basioccipital bone morphology ( J:43344 )

• 8 of 8 (100%) mutants show a basioccipital without a hypoglossal nerve foramen

absent hypoglossal canal ( J:43344 )

abnormal incus morphology ( J:43344 )

• 4 of 6 mutants exhibit a pterygoquadrate element

abnormal gonial bone morphology ( J:43344 )

• 3 of 6 mutants exhibit an abnormal gonial bone

abnormal stapes morphology ( J:43344 )

• 2 of 6 mutants exhibit imperforated stapes

absent stapes obturator foramen ( J:43344 )

• absence of the intercrural foramen of the stapes

abnormal xiphoid process morphology ( J:43344 )

• 100% of mutants show a xiphoid process malformation; xiphoid process shows delayed ossification

abnormal vertebrae morphology ( J:43344 )

fusion of atlas and occipital bones ( J:43344 )

• 1 of 8 (13%) mutants show fusion of the basioccipital with C1-AA

fusion of atlas and odontoid process ( J:43344 )

• 5 of 8 (63%) mutants show fusion of C1-AA with C2 dens

split cervical atlas ( J:43344 )

• 1 of 8 (13%) mutants show a bifid C1

split cervical axis ( J:43344 )

• 2 of 8 (25%) mutants show a bifid C2

abnormal vertebral arch morphology ( J:43344 )

• 7 of 8 (88%) mutants show dyssymphysis of C1 neural arch

fusion of vertebral arches ( J:43344 )

• 4 of 8 (50%) mutants show fusions of neural arches of C2 and C3

vertebral transformation ( J:43344 )

cervical vertebral transformation ( J:43344 )

• 3 of 8 (38%) mutants show anterior transformation of C2 to C1

• 6 of 8 (76%) mutants show anterior transformation of C6 to C5

lumbar vertebral transformation ( J:43344 )

• 5 of 8 (63%) mutants show anterior transformation of L1 to T14

abnormal cartilage morphology ( J:43344 )

abnormal arytenoid cartilage morphology ( J:43344 )

• 100% of mutants have a misshapen arytenoid cartilage

abnormal cricoid cartilage morphology ( J:43344 )

• 100% of mutants have a misshapen cricoid cartilage

abnormal thyroid cartilage morphology ( J:43344 )

• 7 of 8 (88%) mutants show a thyroid cartilage fused to hyoid bone

• 100% of mutants have a misshapen thyroid cartilage

abnormal tracheal cartilage morphology ( J:43344 )

• 100% of mutants have tracheal cartilage malformations

vision/eye

persistent hyperplastic primary vitreous ( J:43344 )

• complete penetrance of persistent hyperplastic primary vitreous

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rarb^tm1Mma mutation (0 available); any Rarb mutation (39 available)
Rarg^tm1Ipc mutation (1 available); any Rarg mutation (151 available)

♀	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 corneal 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

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

Find Mice

♀	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

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

Find Mice

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

craniofacial

absent metoptic pillar ( J:43344 )

• 4 of 12 mutants exhibit agenesis of the metoptic pillar

vision/eye

absent metoptic pillar ( J:43344 )

• 4 of 12 mutants exhibit agenesis of the metoptic pillar

persistent hyperplastic primary vitreous ( J:43344 )

• 5 of 6 E18.5 mutants show a bilateral persistent hyperplastic primary vitreous

skeleton

absent metoptic pillar ( J:43344 )

• 4 of 12 mutants exhibit agenesis of the metoptic pillar

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

Find Mice

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

vision/eye

persistent hyperplastic primary vitreous ( J:43344 )

• 5 of 6 E18.5 mutants show a bilateral persistent hyperplastic primary vitreous

skeleton

abnormal skeleton morphology ( J:43344 )

• 46% of mutants exhibit skeletal malformations

abnormal basioccipital bone morphology ( J:43344 )

• 1 of 13 (8%) mutants exhibit a posterior tubercle on the basioccipital bone

abnormal sternum morphology ( J:43344 )

• 1 of 13 (8%) exhibit sternum malformations

fusion of atlas and odontoid process ( J:43344 )

• 3 of 13 (23%) of mutants exhibit fusion of C1-AA with C2 dens

split cervical axis ( J:43344 )

• 2 of 13 (15%) mutants exhibit a bifid C2

craniofacial

abnormal basioccipital bone morphology ( J:43344 )

• 1 of 13 (8%) mutants exhibit a posterior tubercle on the basioccipital bone

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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