Phenotypes Associated with This Genotype

Genotype
MGI:6368186

• Allelic Composition: Porcn^tm1.1Lcm/Y; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J * CD-1

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

craniofacial

abnormal craniofacial morphology ( J:218165 )

♂

midline cleft upper lip ( J:218165 )

♂ • a mild, fully penetrant median cleft lip

cleft palate ( J:218165 )

♂

vision/eye

abnormal retina pigmentation ( J:218165 )

♂ • severe to mild loss of pigment in the dorsal retina pigmented epithelium

♂ • transdifferentiation of dorsal and ventral RPE into retina without increased apoptosis

abnormal anterior eye segment morphology ( J:218165 )

♂

iris hypoplasia ( J:218165 )

♂

decreased cornea thickness ( J:218165 )

♂ • due to reduced cell numbers

failure of eyelid fusion ( J:218165 )

♂ • open eyelids between E16.5 and E18.0 in all mice

coloboma ( J:218165 )

♂ • in most mice

nervous system

abnormal midbrain-hindbrain boundary morphology ( J:218165 )

♂

growth/size/body

midline cleft upper lip ( J:218165 )

♂ • a mild, fully penetrant median cleft lip

cleft palate ( J:218165 )

♂

digestive/alimentary system

cleft palate ( J:218165 )

♂

pigmentation

abnormal retina pigmentation ( J:218165 )

♂ • severe to mild loss of pigment in the dorsal retina pigmented epithelium

♂ • transdifferentiation of dorsal and ventral RPE into retina without increased apoptosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
focal dermal hypoplasia		DOID:2120	OMIM:305600	J:218165