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Phenotypes Associated with This Genotype
Genotype
MGI:3766018
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 (1 available); any Rara mutation (77 available)
Rarbtm1Mma mutation (0 available); any Rarb mutation (40 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
• 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
• unilateral and bilateral agenesis of the stapedial artery is seen in some fetuses
• 4 of 6 mutants exhibit a pterygoquadrate element
• 3 of 6 mutants exhibit an abnormal gonial bone
• 2 of 6 mutants exhibit imperforated stapes
• 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
• 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


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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last database update
03/25/2025
MGI 6.24
The Jackson Laboratory