Phenotypes associated with this allele

• Allele Symbol: Porcn^tm1.1Lcm
• Allele Name: targeted mutation 1.1, Lewis Murtaugh
• Allele ID: 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

Genotype
MGI:5049885

hm1

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

• ♀: 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

Genotype
MGI:6368182

ht2

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

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

Genotype
MGI:5049889

cn3

• Allelic Composition: Porcn^tm1.1Lcm/Y; Tg(Msx2-cre)5Rem/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

Genotype
MGI:5049887

cn4

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

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

Genotype
MGI:5049886

cn5

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

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

Genotype
MGI:6368183

cn6

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

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

Genotype
MGI:6368181

cn7

• 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

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

Genotype
MGI:6368185

cn8

• 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

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

Genotype
MGI:6368186

cn9

• 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

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

Genotype
MGI:6368187

cn10

• 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

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

Genotype
MGI:5049888

cn11

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

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

Genotype
MGI:5049884

ot12

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

normal phenotype

no abnormal phenotype detected ( J:173672 )

♂ • mice are indistinguishable from wild-type mice