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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Rarbtm1Mma
targeted mutation 1, Manuel Mark
MGI:1857851
Summary 10 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Rarbtm1Mma/Rarbtm1Mma involves: 129S2/SvPas * C57BL/6 MGI:3766010
ht2
Rarbtm1Mma/Rarb+ involves: 129S2/SvPas * C57BL/6 MGI:3766009
cx3
Rarbtm1Mma/Rarbtm1Mma
Rargtm4Ipc/Rargtm4Ipc
involves: 129S2/SvPas MGI:3758084
cx4
Rarbtm1Mma/Rarbtm1Mma
Rargtm1Ipc/Rarg+
involves: 129S2/SvPas * C57BL/6 MGI:3766087
cx5
Raratm1Ipc/Raratm1Ipc
Rarbtm1Mma/Rarb+
involves: 129S2/SvPas * C57BL/6 MGI:3766015
cx6
Raratm1Ipc/Rara+
Rarbtm1Mma/Rarbtm1Mma
involves: 129S2/SvPas * C57BL/6 MGI:3766017
cx7
Raratm1Ipc/Raratm1Ipc
Rarbtm1Mma/Rarbtm1Mma
involves: 129S2/SvPas * C57BL/6 MGI:3766018
cx8
Rarbtm1Mma/Rarbtm1Mma
Rargtm1Ipc/Rargtm1Ipc
involves: 129S2/SvPas * C57BL/6 MGI:3766075
cx9
Rarbtm1Mma/Rarb+
Rargtm1Ipc/Rargtm1Ipc
involves: 129S2/SvPas * C57BL/6 MGI:3766084
cx10
Rarbtm1Mma/Rarb+
Rargtm1Ipc/Rarg+
involves: 129S2/SvPas * C57BL/6 MGI:3766086


Genotype
MGI:3766010
hm1
Allelic
Composition
Rarbtm1Mma/Rarbtm1Mma
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rarbtm1Mma mutation (0 available); any Rarb mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• weight is normal at birth but decreases by about 20% in the female and 25% in male by P20

skeleton
• 36% of mutants exhibit malformed skeletons
• 4% of mutants display a ventral median tubercle at the caudal edge of the basioccipital bone
• 15 of 50 mutants exhibit agenesis of the metoptic pillar
• basioccipital bone eventually fused with the anterior arch of the atlas
• 15 of 75 (20%) mutants show fusion of C1-AA with C2 dens
• 2 of 75 (3%) mutants show a bifid C1
• 5 of 75 (7%) mutants show a bifid C2
• 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
• 2 of 75 (3%) mutants show fusions of neural arches of C2 and C3
• mutants display some homeotic transformations
• 11% of mutants exhibit posterior transformation of C7 to T1

vision/eye
• 15 of 50 mutants exhibit agenesis of the metoptic pillar
• 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
• 86% of mutants exhibit a persistent and hyperplastic primary vitreous body (PHPV)
• the mutants that have a retrolenticular mass within the vitreous body, contain a persistent hyaloid artery and vein
• display a mild reduction of the palpebral aperture at E14.5
• congenital folds of the retina are seen in 4 of 10 mutants at E18.5
• 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
• 4% of mutants display a ventral median tubercle at the caudal edge of the basioccipital bone
• 15 of 50 mutants exhibit agenesis of the metoptic pillar
• basioccipital bone eventually fused with the anterior arch of the atlas

limbs/digits/tail
N
• limbs appear normal

nervous system
N
• nervous system appears normal

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




Genotype
MGI:3766009
ht2
Allelic
Composition
Rarbtm1Mma/Rarb+
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rarbtm1Mma mutation (0 available); any Rarb mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 7 of 50 mutants exhibit agenesis of the metoptic pillar
• display a mild reduction of the palpebral aperture at E14.5

craniofacial
• 7 of 50 mutants exhibit agenesis of the metoptic pillar

skeleton
• 7 of 50 mutants exhibit agenesis of the metoptic pillar




Genotype
MGI:3758084
cx3
Allelic
Composition
Rarbtm1Mma/Rarbtm1Mma
Rargtm4Ipc/Rargtm4Ipc
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rarbtm1Mma mutation (0 available); any Rarb mutation (25 available)
Rargtm4Ipc mutation (0 available); any Rarg mutation (149 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• 3 of 4 unilaterally lack a kidney




Genotype
MGI:3766087
cx4
Allelic
Composition
Rarbtm1Mma/Rarbtm1Mma
Rargtm1Ipc/Rarg+
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rarbtm1Mma mutation (0 available); any Rarb mutation (25 available)
Rargtm1Ipc mutation (1 available); any Rarg mutation (149 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 5 of 6 E18.5 mutants show a bilateral persistent hyperplastic primary vitreous

skeleton
• 46% of mutants exhibit skeletal malformations
• 1 of 13 (8%) mutants exhibit a posterior tubercle on the basioccipital bone
• 1 of 13 (8%) exhibit sternum malformations
• 3 of 13 (23%) of mutants exhibit fusion of C1-AA with C2 dens
• 2 of 13 (15%) mutants exhibit a bifid C2

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




Genotype
MGI:3766015
cx5
Allelic
Composition
Raratm1Ipc/Raratm1Ipc
Rarbtm1Mma/Rarb+
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Raratm1Ipc mutation (0 available); any Rara mutation (76 available)
Rarbtm1Mma mutation (0 available); any Rarb mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• 100% of mutants show skeletal malformations
• 11 of 14 mutants exhibit malformed squamosal bone
• 7 of 14 mutants exhibit a pterygoquadrate element
• 1 of 15 (7%) mutants shows thyroid cartilage fused to hyoid bone
• 3 of 15 (20%) mutants show tracheal cartilage malformations
• 8 of 15 (53%) mutants show fusion of C1-AA with C2 dens
• 3 of 15 (20%) mutants show a bifid C1
• 5 of 15 (33%) mutants show a bifid C2
• 2 of 15 (13%) mutants show fusions of neural arches of C2 and C3
• 6 of 15 (40%) mutants show anterior transformation of L1 to T14
• 3 of 15 (20%) mutants show anterior transformation of C2 to C1

hearing/vestibular/ear
• 7 of 14 mutants exhibit a pterygoquadrate element

craniofacial
• 11 of 14 mutants exhibit malformed squamosal bone
• 7 of 14 mutants exhibit a pterygoquadrate element

respiratory system
• 1 of 15 (7%) mutants shows thyroid cartilage fused to hyoid bone
• 3 of 15 (20%) mutants show tracheal cartilage malformations




Genotype
MGI:3766017
cx6
Allelic
Composition
Raratm1Ipc/Rara+
Rarbtm1Mma/Rarbtm1Mma
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Raratm1Ipc mutation (0 available); any Rara mutation (76 available)
Rarbtm1Mma mutation (0 available); any Rarb mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• 9 of 15 (60%) of mutants exhibit skeletal abnormalities
• 1 of 15 (7%) mutants show sternum malformations
• 8 of 15 (53%) mutants show fusion of C1-AA with C2 dens
• 2 of 15 (13%) mutants show a bifid C2
• 1 of 15 (7%) mutants show posterior transformation of C7 to T1




Genotype
MGI:3766018
cx7
Allelic
Composition
Raratm1Ipc/Raratm1Ipc
Rarbtm1Mma/Rarbtm1Mma
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Raratm1Ipc mutation (0 available); any Rara mutation (76 available)
Rarbtm1Mma mutation (0 available); any Rarb mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die within at most 12 hours following cesarian delivery at E18.5

embryo
• 100% penetrance of agenesis of the Mullerian duct

cardiovascular system
• 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
• seen in many mutants
• unilateral and bilateral agenesis of the stapedial artery is seen in some fetuses
• 2 of 6 mutants show a double inferior vena cava and 1 of 6 mutants exhibit absence of the inferior vena cava
• 100% penetrance at E14.5 and E18.5
• cono-truncal septum is absent in 100% of mutants
• 100% penetrance of high ventricular septal defect

craniofacial
• 8 of 8 (100%) mutants show a basioccipital without a hypoglossal nerve foramen
• 1 of 8 (13%) mutants show fusion of the basioccipital with C1-AA
• 4 of 6 mutants exhibit a pterygoquadrate element
• 3 of 6 mutants exhibit an abnormal gonial bone
• 2 of 6 mutants exhibit imperforated stapes
• unilateral and bilateral agenesis of the stapedial artery is seen in some fetuses
• absence of the intercrural foramen of the stapes

digestive/alimentary system
• agenesis of the anal canal; 100% penentrance
• 100% of mutants lack the esophagotracheal septum
• 2 of 6 mutants at E18.5 show shortening of the sublingual duct

endocrine/exocrine glands
• 2 of 6 mutants at E18.5 show shortening of the sublingual duct
• mutants exhibit a persistent cervical thymus (a complete thymic lobe in the neck region) and/or the absence of one or both thymic lobes

hearing/vestibular/ear
• 4 of 6 mutants exhibit a pterygoquadrate element
• 3 of 6 mutants exhibit an abnormal gonial bone
• 2 of 6 mutants exhibit imperforated stapes
• unilateral and bilateral agenesis of the stapedial artery is seen in some fetuses
• absence of the intercrural foramen of the stapes

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

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

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

nervous system
• lack the foramen of the hypoglossal nerve

renal/urinary system
• 5 of 6 mutants exhibit hydronephrosis, probably secondary to ectopic ureteral openings or involution of the caudal ureter
• 100% penetrance
• 3 of 6 mutants exhibit agenesis of the caudal ureter at E18.5
• all mutants at E14.5 and 4 of 6 mutants at E18.5 exhibit ectopic ureteral openings

reproductive system
• agenesis of the oviduct
• agenesis of the uterus
• agenesis of the cranial vagina

respiratory system
• 100% of mutants lack the esophagotracheal septum
• 100% of mutants have a misshapen arytenoid cartilage
• 100% of mutants have a misshapen cricoid cartilage
• 7 of 8 (88%) mutants show a thyroid cartilage fused to hyoid bone
• 100% of mutants have a misshapen thyroid cartilage
• lung agenesis or hypoplasia
• 100% of mutants have tracheal cartilage malformations

skeleton
• 100% of mutants show skeletal malformations
• 8 of 8 (100%) mutants show a basioccipital without a hypoglossal nerve foramen
• 4 of 6 mutants exhibit a pterygoquadrate element
• 3 of 6 mutants exhibit an abnormal gonial bone
• 2 of 6 mutants exhibit imperforated stapes
• unilateral and bilateral agenesis of the stapedial artery is seen in some fetuses
• absence of the intercrural foramen of the stapes
• 100% of mutants show a xiphoid process malformation; xiphoid process shows delayed ossification
• 1 of 8 (13%) mutants show fusion of the basioccipital with C1-AA
• 5 of 8 (63%) mutants show fusion of C1-AA with C2 dens
• 1 of 8 (13%) mutants show a bifid C1
• 2 of 8 (25%) mutants show a bifid C2
• 7 of 8 (88%) mutants show dyssymphysis of C1 neural arch
• 4 of 8 (50%) mutants show fusions of neural arches of C2 and C3
• 3 of 8 (38%) mutants show anterior transformation of C2 to C1
• 6 of 8 (76%) mutants show anterior transformation of C6 to C5
• 5 of 8 (63%) mutants show anterior transformation of L1 to T14
• 100% of mutants have a misshapen arytenoid cartilage
• 100% of mutants have a misshapen cricoid cartilage
• 7 of 8 (88%) mutants show a thyroid cartilage fused to hyoid bone
• 100% of mutants have a misshapen thyroid cartilage
• 100% of mutants have tracheal cartilage malformations

vision/eye
• complete penetrance of persistent hyperplastic primary vitreous




Genotype
MGI:3766075
cx8
Allelic
Composition
Rarbtm1Mma/Rarbtm1Mma
Rargtm1Ipc/Rargtm1Ipc
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rarbtm1Mma mutation (0 available); any Rarb mutation (25 available)
Rargtm1Ipc mutation (1 available); any Rarg mutation (149 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die within at most 12 hours following cesarian delivery at E18.5

skeleton
• 100% of mutants show skeletal malformations
• 5 of 13 (38%) mutants exhibit a posterior tubercle on the basioccipital bone
• 12 of 13 mutants exhibit agenesis of the metoptic pillar
• 100% of mutants exhibit hypoplasia of ethmoturbinates
• 1 of 13 (8%) mutants shows sternum malformations
• 3 of 13 (23) mutants show fusion of the basioccipital with C1-AA
• 5 of 13 (38%) mutants show fusion of C1-AA with C2 dens
• 100% of mutants have a bifid C2
• 100% of mutants show dyssymphysis of C1 neural arch
• 6 of 13 (46%) mutants show fusions of neural arches of C2 and C3
• 4 of 13 (31%) mutants show anterior transformation of T8 to T7
• 5 of 13 (38%) mutants show anterior transformation of C2 to C1
• 100% of mutants show tracheal cartilage malformations
• 100% of mutants show cricoid cartilage fused to tracheal rings

vision/eye
• 12 of 13 mutants exhibit agenesis of the metoptic pillar
• coloboma of the optic disk is seen in some mutants
• agenesis of the iris stroma is seen at E18.5
• coloboma of the iris is seen in one mutant at E14.5
• small conjunctival sac; bilateral
• agenesis of the corneal stroma at E14.5 and E18.5
• agenesis of the anterior chamber is seen at E18.5
• the equatorial cells are missing in all lenses at E16.5 and E18.5
• lens degeneration is seen in all E18.5 mutants
• the secondary fibers within the lens show features of degeneration, such as swelling and vacuolation of the cytoplasm
• the palpebral aperture is reduced to a narrow slit in all E14.5 mutants
• agenesis of the naso-lacrimal duct is seen at E18.5
• shortening of the ventral retina in all E14.5 mutants that is associated with a ventral rotation of the lens
• neural retina shows extensive foldings
• 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)
• at E18.5, the IPL is essentially lacking
• 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
• complete penetrance of persistent hyperplastic primary vitreous at E18.5
• absent sclera

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

craniofacial
• 5 of 13 (38%) mutants exhibit a posterior tubercle on the basioccipital bone
• 12 of 13 mutants exhibit agenesis of the metoptic pillar
• 3 of 13 (23) mutants show fusion of the basioccipital with C1-AA
• 100% of mutants exhibit hypoplasia of ethmoturbinates

digestive/alimentary system
• 100% of mutants show shortening of the sublingual duct

endocrine/exocrine glands
• 100% of mutants show shortening of the sublingual duct
• agenesis of the Harderian glands is seen at E18.5

renal/urinary system
• 3 of 7 mutants exhibit hydronephrosis, most likely caused by abnormalities of the caudal ureters
• 3 of 7 mutants show agenesis of the caudal ureter and 1 of 7 mutants show an ectopic ureteral opening
• 1 of 7 mutants show an ectopic ureteral opening

respiratory system
• 100% of mutants exhibit hypoplasia of ethmoturbinates
• 100% of mutants show tracheal cartilage malformations
• 100% of mutants show cricoid cartilage fused to tracheal rings

nervous system
• coloboma of the optic disk is seen in some mutants

growth/size/body
• 100% of mutants exhibit hypoplasia of ethmoturbinates




Genotype
MGI:3766084
cx9
Allelic
Composition
Rarbtm1Mma/Rarb+
Rargtm1Ipc/Rargtm1Ipc
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rarbtm1Mma mutation (0 available); any Rarb mutation (25 available)
Rargtm1Ipc mutation (1 available); any Rarg mutation (149 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• 100% of mutants show skeletal malformations
• 2 of 14 (14%) mutants exhibit a posterior tubercle on the basioccipital bone
• 11 of 14 mutants exhibit agenesis of the metoptic pillar
• 100% of mutants show tracheal cartilage malformations
• 11 of 14 (79%) of mutants show cricoid cartilage fused to tracheal rings
• 2 of 14 (14%) mutants show fusion of the basioccipital with C1-AA
• 2 of 14 (14%) mutants show fusion of C1-AA with C2 dens
• 12 of 14 (86%) of mutants have a bifid C2
• 1 of 14 (7%) mutants show fusions of neural arches of C2 and C3
• 5 of 14 (36%) mutants show anterior transformation of T8 to T7
• 2 of 14 (14%) mutants show anterior transformation of C2 to C1

vision/eye
• 11 of 14 mutants exhibit agenesis of the metoptic pillar
• E18.5 mutants show a bilateral persistent hyperplastic primary vitreous
• the palpebral aperture is reduced to a narrow slit in all E14.5 mutants

craniofacial
• 2 of 14 (14%) mutants exhibit a posterior tubercle on the basioccipital bone
• 11 of 14 mutants exhibit agenesis of the metoptic pillar
• 2 of 14 (14%) mutants show fusion of the basioccipital with C1-AA

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

respiratory system
• 100% of mutants show tracheal cartilage malformations
• 11 of 14 (79%) of mutants show cricoid cartilage fused to tracheal rings




Genotype
MGI:3766086
cx10
Allelic
Composition
Rarbtm1Mma/Rarb+
Rargtm1Ipc/Rarg+
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rarbtm1Mma mutation (0 available); any Rarb mutation (25 available)
Rargtm1Ipc mutation (1 available); any Rarg mutation (149 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• 4 of 12 mutants exhibit agenesis of the metoptic pillar

vision/eye
• 4 of 12 mutants exhibit agenesis of the metoptic pillar
• 5 of 6 E18.5 mutants show a bilateral persistent hyperplastic primary vitreous

skeleton
• 4 of 12 mutants exhibit agenesis of the metoptic pillar





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last database update
11/26/2019
MGI 6.14
The Jackson Laboratory