Phenotypes associated with this allele

• Allele Symbol: Rdh10^{tm1d(KOMP)Wtsi}
• Allele Name: targeted mutation 1d, Wellcome Trust Sanger Institute
• Allele ID: MGI:5429724
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rdh10^tm1d(KOMP)Wtsi/Rdh10^tm1d(KOMP)Wtsi	involves: 129S4/SvJaeSor * C57BL/6J * C57BL/6N	MGI:5429767
cn2	Gt(ROSA)26Sor^tm1(cre/ERT2)Tyj/Gt(ROSA)26Sor^+ Rdh10^tm1c(KOMP)Wtsi/Rdh10^tm1d(KOMP)Wtsi	involves: 129S4/SvJae * C57BL/6N * FVB/NJ	MGI:7382902

Genotype
MGI:5429767

hm1

• Allelic Composition: Rdh10^{tm1d(KOMP)Wtsi}/Rdh10^{tm1d(KOMP)Wtsi}
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * C57BL/6N
• Cell Lines: EPD0149_1_D08

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:185330 )

• viable embryos are not found after E10.5

embryo

abnormal embryo turning ( J:185330 )

• defects in axial turning, most apparent at E9.5

embryonic growth arrest ( J:185330 )

• cease growth and axis extension around E9.25

embryonic growth retardation ( J:185330 )

• defects in embryo growth

decreased embryo size ( J:185330 )

decreased somite size ( J:185330 )

• small somites

cardiovascular system

failure of heart looping ( J:185330 )

• fail to undergo normal looping and chamber formation

abnormal heart tube morphology ( J:185330 )

• edemic hearts

hearing/vestibular/ear

small otic vesicle ( J:185330 )

• tiny

homeostasis/metabolism

abnormal vitamin A metabolism ( J:185330 )

• dramatic reduction in retinoic acid signaling

growth/size/body

embryonic growth retardation ( J:185330 )

• defects in embryo growth

decreased embryo size ( J:185330 )

Genotype
MGI:7382902

cn2

• Allelic Composition: Gt(ROSA)26Sor^{tm1(cre/ERT2)Tyj}/Gt(ROSA)26Sor⁺; Rdh10^{tm1c(KOMP)Wtsi}/Rdh10^{tm1d(KOMP)Wtsi}
• Genetic Background: involves: 129S4/SvJae * C57BL/6N * FVB/NJ

craniofacial

craniofacial phenotype ( J:278485 )

N • following tamoxifen treatment at E8.5 at E16.5 mandible size is not significantly different from controls, indicating this does not contribute to cleft palate

abnormal hyoid bone morphology ( J:278485 )

• following tamoxifen treatment at E8.5 at E16.5 variable morphological defects are seen

• in some cases the hyoid primordium is ectopically fused to the laryngeal prominence of the thyroid cartilage and the hyoid primordium has a gentle M shape

decreased palatine bone horizontal plate size ( J:278485 )

• feathery medial growth is lacking and ossified palatine bones do not approach the midline in 50% of embryos at E16.5 following tamoxifen treatment at E8.5

palatal shelves fail to meet at midline ( J:278485 )

• following tamoxifen treatment at E8.5 at E16.5 in 40% of embryos the palatal shelves have elevated but fail to grow to the midline

• however, in maxillary explant cultures shelves elevate and make medial contact at a similar rate to controls

cleft secondary palate ( J:278485 )

• at E16.5 in 36% of embryos following tamoxifen treatment at E8.5

abnormal palatal shelf elevation ( J:278485 )

• following tamoxifen treatment at E8.5 at E14.5 only 33% of mutant embryos have both shelves elevated compared to 82% of controls

• following tamoxifen treatment at E8.5 at E14.5 palatal shelves appear to be obstructed by the arched tongue at the posterior end of the shelves

abnormal tongue muscle morphology ( J:278485 )

• following tamoxifen treatment at E8.5 at E16.5 tongue muscles lack apparent attachment to the hyoid primordium

abnormal tongue position ( J:278485 )

• following tamoxifen treatment at E8.5 at E14.5 the tongue is arched to the posterior rather than relatively flat as in controls

decreased tongue size ( J:278485 )

• following tamoxifen treatment at E8.5 at E14.5 tongue volume is slightly reduced compared to controls

• however, no defects in intrinsic muscle morphology are seen

skeleton

abnormal hyoid bone morphology ( J:278485 )

• following tamoxifen treatment at E8.5 at E16.5 variable morphological defects are seen

• in some cases the hyoid primordium is ectopically fused to the laryngeal prominence of the thyroid cartilage and the hyoid primordium has a gentle M shape

decreased palatine bone horizontal plate size ( J:278485 )

• feathery medial growth is lacking and ossified palatine bones do not approach the midline in 50% of embryos at E16.5 following tamoxifen treatment at E8.5

abnormal cricoid cartilage morphology ( J:278485 )

• following tamoxifen treatment at E8.5 at E16.5 variable morphological defects are seen

abnormal thyroid cartilage morphology ( J:278485 )

• following tamoxifen treatment at E8.5 at E16.5 variable morphological defects are seen

• in some cases the hyoid primordium is ectopically fused to the laryngeal prominence of the thyroid cartilage

nervous system

abnormal motor neuron morphology ( J:278485 )

• following tamoxifen treatment at E8.5 at E11.5 the C1 motor nerve fuses directly to the CN XII nerve in 50% of embryos but never seen in controls

abnormal hypoglossal nerve morphology ( J:278485 )

• following tamoxifen treatment at E8.5 at E11.5 the C1 motor nerve fuses directly to the CN XII nerve in 50% of embryos but never seen in controls

respiratory system

abnormal cricoid cartilage morphology ( J:278485 )

• following tamoxifen treatment at E8.5 at E16.5 variable morphological defects are seen

abnormal thyroid cartilage morphology ( J:278485 )

• following tamoxifen treatment at E8.5 at E16.5 variable morphological defects are seen

• in some cases the hyoid primordium is ectopically fused to the laryngeal prominence of the thyroid cartilage

muscle

abnormal tongue muscle morphology ( J:278485 )

• following tamoxifen treatment at E8.5 at E16.5 tongue muscles lack apparent attachment to the hyoid primordium

digestive/alimentary system

decreased palatine bone horizontal plate size ( J:278485 )

• feathery medial growth is lacking and ossified palatine bones do not approach the midline in 50% of embryos at E16.5 following tamoxifen treatment at E8.5

palatal shelves fail to meet at midline ( J:278485 )

• following tamoxifen treatment at E8.5 at E16.5 in 40% of embryos the palatal shelves have elevated but fail to grow to the midline

• however, in maxillary explant cultures shelves elevate and make medial contact at a similar rate to controls

cleft secondary palate ( J:278485 )

• at E16.5 in 36% of embryos following tamoxifen treatment at E8.5

abnormal palatal shelf elevation ( J:278485 )

• following tamoxifen treatment at E8.5 at E14.5 only 33% of mutant embryos have both shelves elevated compared to 82% of controls

• following tamoxifen treatment at E8.5 at E14.5 palatal shelves appear to be obstructed by the arched tongue at the posterior end of the shelves

abnormal tongue muscle morphology ( J:278485 )

• following tamoxifen treatment at E8.5 at E16.5 tongue muscles lack apparent attachment to the hyoid primordium

abnormal tongue position ( J:278485 )

• following tamoxifen treatment at E8.5 at E14.5 the tongue is arched to the posterior rather than relatively flat as in controls

decreased tongue size ( J:278485 )

• following tamoxifen treatment at E8.5 at E14.5 tongue volume is slightly reduced compared to controls

• however, no defects in intrinsic muscle morphology are seen

growth/size/body

decreased palatine bone horizontal plate size ( J:278485 )

• feathery medial growth is lacking and ossified palatine bones do not approach the midline in 50% of embryos at E16.5 following tamoxifen treatment at E8.5

palatal shelves fail to meet at midline ( J:278485 )

• following tamoxifen treatment at E8.5 at E16.5 in 40% of embryos the palatal shelves have elevated but fail to grow to the midline

• however, in maxillary explant cultures shelves elevate and make medial contact at a similar rate to controls

cleft secondary palate ( J:278485 )

• at E16.5 in 36% of embryos following tamoxifen treatment at E8.5

abnormal palatal shelf elevation ( J:278485 )

• following tamoxifen treatment at E8.5 at E14.5 only 33% of mutant embryos have both shelves elevated compared to 82% of controls

• following tamoxifen treatment at E8.5 at E14.5 palatal shelves appear to be obstructed by the arched tongue at the posterior end of the shelves

abnormal tongue muscle morphology ( J:278485 )

• following tamoxifen treatment at E8.5 at E16.5 tongue muscles lack apparent attachment to the hyoid primordium

abnormal tongue position ( J:278485 )

• following tamoxifen treatment at E8.5 at E14.5 the tongue is arched to the posterior rather than relatively flat as in controls

decreased tongue size ( J:278485 )

• following tamoxifen treatment at E8.5 at E14.5 tongue volume is slightly reduced compared to controls

• however, no defects in intrinsic muscle morphology are seen