Phenotypes Associated with This Genotype

Genotype
MGI:6368188

• Allelic Composition: Porcn^tm1.2Lcm/Porcn^tm1.2Lcm
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * DBA/2

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

limbs/digits/tail

abnormal limb morphology ( J:218165 )

♀ • limb atrophy

forelimb oligodactyly ( J:218165 )

♀ • absence of digits in the forelimb

syndactyly ( J:218165 )

♀

short tail ( J:218165 )

♀

curly tail ( J:218165 )

♀

craniofacial

abnormal craniofacial morphology ( J:218165 )

♀ • in some mice

vision/eye

abnormal retina pigmentation ( J:218165 )

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

failure of eyelid fusion ( J:218165 )

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

coloboma ( J:218165 )

♀ • at E13.5

nervous system

abnormal midbrain-hindbrain boundary morphology ( J:218165 )

♀ • in some mice

embryo

caudal body truncation ( J:218165 )

♀

pigmentation

abnormal retina pigmentation ( J:218165 )

♀ • severe 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