Phenotypes Associated with This Genotype

Genotype
MGI:6368183

• Allelic Composition: Porcn^tm1.1Lcm/Y; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1

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

vision/eye

abnormal retina pigmentation ( J:218165 )

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

coloboma ( J:218165 )

♂ • in most mice

nervous system

abnormal midbrain-hindbrain boundary morphology ( J:218165 )

♂ • in most mice

craniofacial

abnormal craniofacial morphology ( J:218165 )

♂ • in most mice

pigmentation

abnormal retina pigmentation ( J:218165 )

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

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