Phenotypes Associated with This Genotype

Genotype
MGI:4437852

• Allelic Composition: Rdh10^trex/Rdh10^trex
• Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/NJ

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

Short forelimbs in E9.5-E10.5 Rdh10^trex/Rdh10^trex embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:121229 , J:171522 )

• mice die by E13.0 (J:121229)

• however, mice from females supplemented with retinoic acid from E7.5 to E10.5 exhibit normal Mendelian frequency at E13.0 (J:121229)

• embryos survive only until E12.5-13.5 (J:171522)

craniofacial

abnormal craniofacial morphology ( J:121229 )

• mice exhibit craniofacial defects unlike wild-type mice

• however, craniofacial defects in mice from females supplemented with retinoic acid from E7.5 to E10.5 are rescued

abnormal frontonasal prominence morphology ( J:121229 )

• variable clefting of the frontonasal process

frontonasal prominence hypoplasia ( J:171522 )

• frontonasal hypoplasia

abnormal lateral nasal prominence morphology ( J:171522 )

• insufficient growth and fusion

abnormal maxillary prominence morphology ( J:171522 )

• distal maxillary hypoplasia

abnormal medial nasal prominence morphology ( J:171522 )

• insufficient growth and fusion

abnormal nasal placode morphology ( J:171522 )

• laterally displaced nasal placodes

abnormal pharyngeal arch morphology ( J:171522 )

abnormal second pharyngeal arch artery morphology ( J:171522 )

• E10.5 mutant embryos exhibit a persistent connection between the second arch artery and endocardium of the outflow tract of the heart

absent sixth pharyngeal arch artery ( J:171522 )

• at E10.5, PECAM-1 immunostaining revealed an absence of the sixth pharyngeal artery in trex mutant embryos

abnormal third pharyngeal arch morphology ( J:171522 )

• the third pharyngeal arch was severly reduced in size and appeared rudimentary and was often fused to the second arch

absent third pharyngeal arch artery ( J:171522 )

• at E10.5, PECAM-1 immunostaining revealed an absence of the third pharyngeal artery in trex mutant embryos

absent pharyngeal arches ( J:121229 )

• at E10.5, caudal pharyngeal arches are absent unlike in wild-type mice

absent fourth pharyngeal arch ( J:171522 )

• agenesis of the fourth pharyngeal arch

fused pharyngeal arches ( J:171522 )

• the third pharyngeal arch appeared as a rudimentary strucure that was fused distally with the second arch

absent nasal cavity ( J:121229 )

• mice exhibit agenesis of nasal chambers unlike in wild-type mice

absent nasal septum ( J:121229 )

facial cleft ( J:121229 )

• mice exhibit variable frontonasal process clefting unlike wild-type mice

• however, facial clefting in mice from females supplemented with retinoic acid from E7.5 to E10.5 are rescued

midline facial cleft ( J:171522 )

• midline facial cleft apparent by E12.5-13.5

nervous system

abnormal cranial ganglia morphology ( J:121229 , J:171522 )

• from E10.5 to E13.5, formation of trigeminal, facial, vestibuloacoustic, and glossopharyngeal ganglia is abnormal compared to in wild-type mice (J:121229)

• from E10.5 to E13.5, the proximal region of each ganglion is reduced in size or missing compared to in wild-type mice (J:121229)

• at E9.5, caudal ganglia are severely affected with absence of the neural crest derived populations in the cervical region (J:171522)

abnormal vestibulocochlear ganglion morphology ( J:121229 , J:171522 )

• from E10.5 to E13.5, vestibuloacoustic ganglia formation is abnormal compared to in wild-type mice (J:121229)

• at E9.5, agenesis of the facioacoustic/vestibulocochlear ganglion (J:171522)

• at E10.5, considerable disorganization and agenesis of the facioacoustic/vestibulocochlear branches (J:171522)

abnormal geniculate ganglion morphology ( J:121229 , J:171522 )

• from E10.5 to E13.5, facial ganglia formation is abnormal compared to in wild-type mice (J:121229)

• at E9.5, the facial ganglion is missing the dorsal root (J:171522)

abnormal glossopharyngeal ganglion morphology ( J:121229 , J:171522 )

• from E10.5 to E13.5, glossopharyngeal ganglia formation is abnormal compared to in wild-type mice (J:121229)

• at E9.5, agenesis of the glossopharyngeal ganglion (J:171522)

• at E10.5, considerable disorganization and agenesis of the glossopharyngeal branches (J:171522)

abnormal trigeminal ganglion morphology ( J:121229 , J:171522 )

• from E10.5 to E13.5, trigeminal ganglia formation is abnormal compared to in wild-type mice (J:121229)

• at E9.5, trigeminal ganglion is missing the dorsal half, or proximal root, suggesting pertubations of neural crest cell migration in mutant embryos (J:171522)

• at E10.5, mutant embryos exhibit hypoplastic trigeminal ganglia with truncated maxillary and mandibular branches (J:171522)

abnormal vagus ganglion morphology ( J:171522 )

• at E9.5, agenesis of the vagal ganglion

• at E10.5, considerable disorganization and agenesis of the vagal branches

limbs/digits/tail

abnormal forelimb bud morphology ( J:121229 )

• at E10.5, forelimb patterning is abnormal compared to in wild-type mice based on marker expression

decreased autopod size ( J:121229 )

• at E12.5 to E13.0, autopods are narrow with abnormal interdigitation compared with wild-type mice

• however, interdigitation defects in mice from females supplemented with retinoic acid from E7.5 to E10.5 are rescued

abnormal forelimb morphology ( J:121229 )

• at E13.0, forelimbs exhibit abnormal and reduced cartilage condensation compared to in wild-type mice

• at E13.5, forelimbs are small and abnormally shaped compared to in wild-type mice

• however, limb outgrowth anomalies in mice from females supplemented with retinoic acid from E7.5 to E10.5 are rescued

absent radius ( J:121229 )

• often

abnormal digit development ( J:121229 )

• at E12.5 to E13.0, autopods exhibit abnormal interdigitation compared with wild-type mice

vision/eye

absent cornea ( J:121229 )

• the cornea is absent

small lens ( J:121229 )

• the lens is hypoplastic compared to in wild-type mice

abnormal eye development ( J:121229 , J:171522 )

• by E12.5, agenesis of the ventral half of the eye is apparent (J:171522)

abnormal optic vesicle formation ( J:121229 , J:171522 )

• at E10.5, optic vesicles are misshapen unlike in wild-type mice (J:121229)

• at E9.5, optic vesicle is smaller than in controls (J:171522)

abnormal retina morphology ( J:121229 )

• the ventral half of the retina is absent

respiratory system

abnormal nasal placode morphology ( J:171522 )

• laterally displaced nasal placodes

absent nasal cavity ( J:121229 )

• mice exhibit agenesis of nasal chambers unlike in wild-type mice

absent nasal septum ( J:121229 )

abnormal lung development ( J:121229 )

• lungs fail to undergo growth and branching morphogenesis compared to in wild-type mice

impaired branching involved in trachea morphogenesis ( J:121229 )

absent lung buds ( J:121229 )

• at E10.5, mice exhibit lung bud agenesis compared to wild-type mice

pulmonary hypoplasia ( J:121229 )

embryo

embryo phenotype ( J:121229 )

N • mice exhibit normal bilateral symmetry of somite formation and differentiation

abnormal pharyngeal arch morphology ( J:171522 )

abnormal second pharyngeal arch artery morphology ( J:171522 )

• E10.5 mutant embryos exhibit a persistent connection between the second arch artery and endocardium of the outflow tract of the heart

absent sixth pharyngeal arch artery ( J:171522 )

• at E10.5, PECAM-1 immunostaining revealed an absence of the sixth pharyngeal artery in trex mutant embryos

abnormal third pharyngeal arch morphology ( J:171522 )

• the third pharyngeal arch was severly reduced in size and appeared rudimentary and was often fused to the second arch

absent third pharyngeal arch artery ( J:171522 )

• at E10.5, PECAM-1 immunostaining revealed an absence of the third pharyngeal artery in trex mutant embryos

absent pharyngeal arches ( J:121229 )

• at E10.5, caudal pharyngeal arches are absent unlike in wild-type mice

absent fourth pharyngeal arch ( J:171522 )

• agenesis of the fourth pharyngeal arch

fused pharyngeal arches ( J:171522 )

• the third pharyngeal arch appeared as a rudimentary strucure that was fused distally with the second arch

abnormal forelimb bud morphology ( J:121229 )

• at E10.5, forelimb patterning is abnormal compared to in wild-type mice based on marker expression

digestive/alimentary system

abnormal midgut morphology ( J:121229 )

• hypoplastic

small stomach ( J:121229 )

hearing/vestibular/ear

abnormal otic vesicle morphology ( J:121229 )

• often duplicated and displaced at E10.5

abnormal otic vesicle development ( J:171522 )

• at E9.5, the otocyst is displaced rostrally and the otic placode frequently gives rise to multiple supernumerary otocyst adjacent to the caudal hindbrain and rostral spinal cord

small otic vesicle ( J:121229 )

• at E10.5

liver/biliary system

abnormal liver parenchyma morphology ( J:121229 )

• livers contain fewer lobes than in wild-type mice

small liver ( J:121229 )

reproductive system

abnormal reproductive system development ( J:121229 )

• at E13.0, gonads are underdeveloped compared to in wild-type mice

small gonad ( J:121229 )

• at E13.0

renal/urinary system

abnormal metanephros morphology ( J:121229 )

• at E13.0, the metanephros rudiments are hypoplastic and underdeveloped compared to in wild-type mice

cardiovascular system

abnormal dorsal aorta morphology ( J:171522 )

• at E10.5, the dorsal aorta, which connects to the pharyngeal arch arteries, is considerably narrower in mutants compared to controls

abnormal second pharyngeal arch artery morphology ( J:171522 )

• E10.5 mutant embryos exhibit a persistent connection between the second arch artery and endocardium of the outflow tract of the heart

absent sixth pharyngeal arch artery ( J:171522 )

• at E10.5, PECAM-1 immunostaining revealed an absence of the sixth pharyngeal artery in trex mutant embryos

absent third pharyngeal arch artery ( J:171522 )

• at E10.5, PECAM-1 immunostaining revealed an absence of the third pharyngeal artery in trex mutant embryos

abnormal cardiac outflow tract development ( J:171522 )

• E10.5 mutant embryos exhibit a persistent connection between the second arch artery and endocardium of the outflow tract of the heart

hemorrhage ( J:121229 )

• mice exhibit hemorrhage and blood pooling unlike wild-type mice

endocrine/exocrine glands

absent pancreas ( J:121229 )

skeleton

absent radius ( J:121229 )

• often

taste/olfaction

abnormal nasal placode morphology ( J:171522 )

• laterally displaced nasal placodes

growth/size/body

absent nasal cavity ( J:121229 )

• mice exhibit agenesis of nasal chambers unlike in wild-type mice

absent nasal septum ( J:121229 )

facial cleft ( J:121229 )

• mice exhibit variable frontonasal process clefting unlike wild-type mice

• however, facial clefting in mice from females supplemented with retinoic acid from E7.5 to E10.5 are rescued

midline facial cleft ( J:171522 )

• midline facial cleft apparent by E12.5-13.5