Phenotypes associated with this allele

• Allele Symbol: Porcn⁺
• Allele Name: wild type
• Allele ID: MGI:2439700
• Summary: 12 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Porcn^tm1.1Jrt/Porcn^+	B6.Cg-Porcn^tm1.1Jrt	MGI:5523420
ht2	Porcn^tm1Vdv/Porcn^+	chimera involves: 129S5/SvEvBrd * C57BL/6J	MGI:5435559
ht3	Porcn^tm1.2Vdv/Porcn^+	involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J * FVB/N	MGI:5435563
ht4	Porcn^tm1.1Jrt/Porcn^+	involves: 129S6/SvEvTac * C57BL/6NCr * ICR	MGI:5523424
cn5	Porcn^tm1.1Jrt/Porcn^+ Tg(CAG-EGFP)D4Nagy/0 Tg(Zp3-cre)3Mrt/0	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * C57BL/6NCr * FVB/N	MGI:5523431
cn6	Porcn^tm1.1Lcm/Porcn^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:5049887
cn7	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
cn8	Porcn^tm1.1Vdv/Porcn^+ Tg(KRT14-cre)1Efu/0	involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J	MGI:5435569
cn9	Porcn^tm1.1Vdv/Porcn^+ Tg(EIIa-cre)C5379Lmgd/0	involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J * FVB/N	MGI:5435561
cn10	Porcn^tm1.1Jrt/Porcn^+ Tg(Ttr-cre)1Hadj/0	involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NCr * CBA/J	MGI:5523430
cn11	Porcn^tm1.1Jrt/Porcn^+ Tg(CAG-cre)1Nagy/0	involves: 129S6/SvEvTac * C57BL/6NCr * ICR	MGI:5523429
cn12	Porcn^tm1.1Vdv/Porcn^+ Hprt1^tm1(CAG-cre)Mnn/Hprt1^+	involves: 129S/Sv * C57BL/6J	MGI:5435565

Genotype
MGI:5523420

ht1

• Allelic Composition: Porcn^tm1.1Jrt/Porcn⁺
• Genetic Background: B6.Cg-Porcn^tm1.1Jrt

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

normal phenotype

no abnormal phenotype detected ( J:198636 )

♀ • no defects observed

♀ • fertility normal

Genotype
MGI:5435559

ht2

• Allelic Composition: Porcn^tm1Vdv/Porcn⁺
• Genetic Background: chimera involves: 129S5/SvEvBrd * C57BL/6J

Digit, vertebral, kidney, and reproductive system abnormalities in Porcn^tm1Vdv/Y and Porcn^tm1Vdv/Porcn⁺ chimeras

reproductive system

abnormal uterine horn morphology ( J:186934 )

♀ • rudimentary

renal/urinary system

hydronephrosis ( J:186934 )

♀

skeleton

fused phalanges ( J:186934 )

♀ • absent, fused, and shortened digits on 1 to all 4 of the extremities

abnormal caudal vertebrae morphology ( J:186934 )

♀

limbs/digits/tail

fused phalanges ( J:186934 )

♀ • absent, fused, and shortened digits on 1 to all 4 of the extremities

brachydactyly ( J:186934 )

♀ • absent, fused, and shortened digits on 1 to all 4 of the extremities

oligodactyly ( J:186934 )

♀ • absent, fused, and shortened digits on 1 to all 4 of the extremities

abnormal caudal vertebrae morphology ( J:186934 )

♀

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
focal dermal hypoplasia		DOID:2120	OMIM:305600	J:186934

Genotype
MGI:5435563

ht3

• Allelic Composition: Porcn^tm1.2Vdv/Porcn⁺
• Genetic Background: involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J * FVB/N

mortality/aging

prenatal lethality, incomplete penetrance ( J:186934 )

♀ • only 2 heterozygotes are recovered

embryonic lethality, incomplete penetrance ( J:186934 )

♀

integument

abnormal hair growth ( J:186934 )

♀ • decreased hair growth

Genotype
MGI:5523424

ht4

• Allelic Composition: Porcn^tm1.1Jrt/Porcn⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCr * ICR

normal phenotype

no abnormal phenotype detected ( J:198636 )

♀ • no defects observed

♀ • fertility normal

Genotype
MGI:5523431

cn5

• Allelic Composition: Porcn^tm1.1Jrt/Porcn⁺; Tg(CAG-EGFP)D4Nagy/0; Tg(Zp3-cre)3Mrt/0
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * C57BL/6NCr * FVB/N

embryo

embryo phenotype ( J:198636 )

♀N • heterozygous females implant normally when the mutant allele ant the cre transgene are from the mother and the reporter is from the father

Genotype
MGI:5049887

cn6

• 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:6368187

cn7

• 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:5435569

cn8

• Allelic Composition: Porcn^tm1.1Vdv/Porcn⁺; Tg(KRT14-cre)1Efu/0
• Genetic Background: involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J

integument

abnormal hair growth ( J:186934 )

♀ • barely detectable hair loss

Genotype
MGI:5435561

cn9

• Allelic Composition: Porcn^tm1.1Vdv/Porcn⁺; Tg(EIIa-cre)C5379Lmgd/0
• Genetic Background: involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J * FVB/N

mortality/aging

prenatal lethality, incomplete penetrance ( J:186934 )

♀ • out of 13 litters only 3 males were recovered and these had a low level of mosaicism

integument

abnormal hair growth ( J:186934 )

♀ • decreased hair growth in survivors

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
focal dermal hypoplasia		DOID:2120	OMIM:305600	J:186934

Genotype
MGI:5523430

cn10

• Allelic Composition: Porcn^tm1.1Jrt/Porcn⁺; Tg(Ttr-cre)1Hadj/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NCr * CBA/J

mortality/aging

mortality/aging ( J:198636 )

♀N • heterozygous females present at the expected ratio at weaning

Genotype
MGI:5523429

cn11

• Allelic Composition: Porcn^tm1.1Jrt/Porcn⁺; Tg(CAG-cre)1Nagy/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCr * ICR

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:198636 )

♀ • embryos in which the mutant allele is derived from the mother are only recovered to E11.5

embryo

embryo phenotype ( J:198636 )

♀N • chorionic plate is normal in E9.5 embryos in which the mutant allele is derived from the mother

abnormal embryo development ( J:198636 )

♀ • embryos described above fail to thrive

abnormal allantois morphology ( J:198636 )

♀ • a ball of allantoic tissue is found at the posterior end of the embryos described above

abnormal placenta morphology ( J:198636 )

♀ • embryos described above fail to establish a functional placenta

abnormal umbilical cord morphology ( J:198636 )

♀ • embryos descrbed above fail to establish a functional umbilical cord

nervous system

nervous system phenotype ( J:198636 )

♀N • neural tube closure defects are very rare

Genotype
MGI:5435565

cn12

• Allelic Composition: Porcn^tm1.1Vdv/Porcn⁺; Hprt1^{tm1(CAG-cre)Mnn}/Hprt1⁺
• Genetic Background: involves: 129S/Sv * C57BL/6J

Open neural tube and abdominal wall closure defect in Porcn^tm1.1Vdv/Porcn⁺ Hprt1^{tm1(CAG-cre)Mnn}/Hprt1⁺ mice

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:186934 )

♀ • most die before E12.5

prenatal lethality, complete penetrance ( J:186934 )

♀

embryo

caudal body truncation ( J:186934 )

♀ • axial/tail truncation in most embryos

embryonic growth retardation ( J:186934 )

♀ • become progressively smaller compared to wild-type controls

open neural tube ( J:186934 )

♀ • in most embryos

growth/size/body

embryonic growth retardation ( J:186934 )

♀ • become progressively smaller compared to wild-type controls

abnormal ventral body wall morphology ( J:186934 )

♀ • defects in ventral body wall closure in most embryos

nervous system

open neural tube ( J:186934 )

♀ • in most embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
focal dermal hypoplasia		DOID:2120	OMIM:305600	J:186934