All Phenotypes Porcn<tm1.2Lcm> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Porcn^tm1.2Lcm
targeted mutation 1.2, Lewis Murtaugh
MGI:6368150

Summary

3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Porcn^tm1.2Lcm/Porcn^tm1.2Lcm	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * DBA/2	MGI:6368188
ht2	Porcn^tm1.1Lcm/Porcn^tm1.2Lcm	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1	MGI:6368182
cn3	Porcn^tm1.1Lcm/Porcn^tm1.2Lcm Tg(Six3-cre)69Frty/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * DBA/2	MGI:6368181

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Porcn^tm1.2Lcm mutation (0 available); any Porcn mutation (18 available)

♀	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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Porcn^tm1.1Lcm mutation (0 available); any Porcn mutation (18 available)
Porcn^tm1.2Lcm mutation (0 available); any Porcn mutation (18 available)

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

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 some mice

coloboma ( J:218165 )

• in some mice

nervous system

abnormal midbrain-hindbrain boundary morphology ( J:218165 )

• in some mice

craniofacial

abnormal craniofacial morphology ( J:218165 )

• in some mice

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

Allelic Composition	Porcn^tm1.1Lcm/Porcn^tm1.2Lcm Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * DBA/2

Find Mice

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

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

growth/size/body

failure of ventral body wall closure ( J:218165 )

nervous system

abnormal midbrain-hindbrain boundary morphology ( J:218165 )

• in some mice

pigmentation

abnormal retina pigmentation ( J:218165 )

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

integument

skin hypoplasia ( J:218165 )

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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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