All Phenotypes Porcn<tm1.1Lcm> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Porcn^tm1.1Lcm
targeted mutation 1.1, Lewis Murtaugh
MGI:4429133

Summary

12 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Porcn^tm1.1Lcm/Porcn^tm1.1Lcm	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5049885
ht2	Porcn^tm1.1Lcm/Porcn^tm1.2Lcm	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1	MGI:6368182
cn3	Porcn^tm1.1Lcm/Y Tg(Msx2-cre)5Rem/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5049889
cn4	Porcn^tm1.1Lcm/Porcn⁺ Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:5049887
cn5	Porcn^tm1.1Lcm/Y Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:5049886
cn6	Porcn^tm1.1Lcm/Y Tg(rx3-icre)1Mjam/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1	MGI:6368183
cn7	Porcn^tm1.1Lcm/Porcn^tm1.2Lcm Tg(Six3-cre)69Frty/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * DBA/2	MGI:6368181
cn8	Porcn^tm1.1Lcm/Y H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J * CD-1	MGI:6368185
cn9	Porcn^tm1.1Lcm/Y H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺ Tg(rx3-icre)1Mjam/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J * CD-1	MGI:6368186
cn10	Porcn^tm1.1Lcm/Porcn⁺ H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺ Tg(rx3-icre)1Mjam/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J * CD-1	MGI:6368187
cn11	Porcn^tm1.1Lcm/Y Tg(Prrx1-cre)1Cjt/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL/J	MGI:5049888
ot12	Porcn^tm1.1Lcm/Y	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5049884

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

Find Mice

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

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

normal phenotype

no abnormal phenotype detected ( J:173672 )

• mice are indistinguishable from wild-type mice

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/Y Tg(Msx2-cre)5Rem/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Porcn^tm1.1Lcm mutation (0 available); any Porcn mutation (18 available)
Tg(Msx2-cre)5Rem mutation (2 available)

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

Tissue-specific Porcn^tm1.1Lcm deletion phenotypes include skeletal defects and skin abnormalities

limbs/digits/tail

decreased autopod size ( J:173672 )

• truncated

syndactyly ( J:173672 )

integument

abnormal skin morphology ( J:173672 )

• at E18.5, mice exhibit focal and dermis defects compared with wild-type mice

abnormal dermal layer morphology ( J:173672 )

• at E18.5

Allelic Composition	Porcn^tm1.1Lcm/Porcn⁺ Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Edil3^{Tg(Sox2-cre)1Amc} mutation (5 available); any Edil3 mutation (42 available)
Porcn^tm1.1Lcm mutation (0 available); any Porcn mutation (18 available)

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

Focal dermal hypoplasia-like phenotypes in Porcn^tm1.1Lcm/Porcn⁺ Edil3^{Tg(Sox2-cre)1Amc}/0 embryos

mortality/aging

perinatal lethality, complete penetrance ( J:173672 )

• only 1 viable pup was produced from several litters

limbs/digits/tail

abnormal autopod morphology ( J:173672 )

• absent

absent ulna ( J:173672 )

abnormal tail morphology ( J:173672 )

short tail ( J:173672 )

• tail hypoplasia at E17.5

integument

integument phenotype ( J:173672 )

N	• mice exhibit normal keratinocyte development

hairless ( J:173672 )

• in one mouse produced on its ventral skin

abnormal hair follicle development ( J:173672 )

• at E17.5, mice exhibit large patches of abnormally smooth, hair follicle-free epidermis unlike in wild-type mice

thin dermal layer ( J:173672 )

• mice exhibit dermal atrophy unlike wild-type mice

growth/size/body

cleft palate ( J:173672 )

• at E17.5

omphalocele ( J:173672 )

• at E17.5

decreased body size ( J:173672 )

• in one mouse produced

embryo

caudal body truncation ( J:173672 )

• tail/posterior axis truncation

craniofacial

cleft palate ( J:173672 )

• at E17.5

skeleton

absent ulna ( J:173672 )

sternum hypoplasia ( J:173672 )

• in severe cases

digestive/alimentary system

cleft palate ( J:173672 )

• at E17.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
focal dermal hypoplasia		DOID:2120	OMIM:305600	J:173672

Allelic Composition	Porcn^tm1.1Lcm/Y Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Find Mice

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:173672 )

• no mice are recovered between E15.5 and E18.5

embryo

abnormal mesoderm development ( J:173672 )

• at E6.5, mice fail to express Brachyury, an early mesoderm marker, unlike in wild-type mice

Allelic Composition	Porcn^tm1.1Lcm/Y Tg(rx3-icre)1Mjam/0
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)
Tg(rx3-icre)1Mjam mutation (0 available)

♀	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

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2^{Tg(Wnt1-cre)11Rth} mutation (2 available); any H2az2 mutation (26 available)
Porcn^tm1.1Lcm mutation (0 available); any Porcn mutation (18 available)

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

craniofacial

abnormal craniofacial morphology ( J:218165 )

• in all mice

abnormal craniofacial development ( J:218165 )

• abnormal development of facial primordia

midline cleft upper lip ( J:218165 )

• a mild, fully penetrant median cleft lip

cleft palate ( J:218165 )

vision/eye

coloboma ( J:218165 )

• in some mice

nervous system

abnormal midbrain-hindbrain boundary morphology ( J:218165 )

• in all mice

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 )

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/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

Find Mice

♀	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

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

Find Mice

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

vision/eye

abnormal retina pigmentation ( J:218165 )

• mild loss of pigment in the dorsal retina pigmented epithelium of most mice

coloboma ( J:218165 )

• in some mice

microphthalmia ( J:218165 )

• slightly in affected eyes

pigmentation

abnormal retina pigmentation ( J:218165 )

• mild loss of pigment in the dorsal retina pigmented epithelium of most mice

Allelic Composition	Porcn^tm1.1Lcm/Y Tg(Prrx1-cre)1Cjt/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Porcn^tm1.1Lcm mutation (0 available); any Porcn mutation (18 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)

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

Tissue-specific Porcn^tm1.1Lcm deletion phenotypes include skeletal defects and skin abnormalities

limbs/digits/tail

oligodactyly ( J:173672 )

• mice exhibit loss of distal digits compared with wild-type mice

• however, all individual skeletal elements are preserved

short limbs ( J:173672 )

• at E17.5

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

Find Mice

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

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

normal phenotype

no abnormal phenotype detected ( J:173672 )

• mice are indistinguishable from wild-type mice

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