All Phenotypes Porcn<tm1.1Vdv> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Porcn^tm1.1Vdv
targeted mutation 1.1, Ignatia B Van den Veyver
MGI:5435556

Summary

6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Porcn^tm1.1Vdv/Porcn⁺ Hprt1^{tm1(CAG-cre)Mnn}/Hprt1⁺	involves: 129S/Sv * C57BL/6J	MGI:5435565
cn2	Porcn^tm1.1Vdv/Y Tg(Prrx1-cre)1Cjt/0	involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6 * SJL/J	MGI:5435567
cn3	Porcn^tm1.1Vdv/Y Tg(KRT14-cre)1Efu/0	involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J	MGI:5435568
cn4	Porcn^tm1.1Vdv/Porcn⁺ Tg(KRT14-cre)1Efu/0	involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J	MGI:5435569
cn5	Porcn^tm1.1Vdv/Porcn⁺ Tg(EIIa-cre)C5379Lmgd/0	involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J * FVB/N	MGI:5435561
cn6	Porcn^tm1.1Vdv/Y Tg(EIIa-cre)C5379Lmgd/0	involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J * FVB/N	MGI:5435562

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm1(CAG-cre)Mnn} mutation (1 available); any Hprt1 mutation (1274 available)
Porcn^tm1.1Vdv mutation (1 available); any Porcn mutation (18 available)

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

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

Allelic Composition	Porcn^tm1.1Vdv/Y Tg(Prrx1-cre)1Cjt/0
Genetic Background	involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6 * SJL/J

Find Mice

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

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

Skeletal abnormalities in Porcn^tm1.1Vdv/Y Tg(Prrx1-cre)1Cjt/0 mice

growth/size/body

decreased body size ( J:186934 )

• at P7

postnatal growth retardation ( J:186934 )

• become progressively stunted between P7 and P28

limbs/digits/tail

brachydactyly ( J:186934 )

syndactyly ( J:186934 )

• soft tissue syndactyly in some mice on both the fore- and hindlimbs

short limbs ( J:186934 )

skeleton

decreased length of long bones ( J:186934 )

• long bones of all extremities and digits are short

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Porcn^tm1.1Vdv mutation (1 available); any Porcn mutation (18 available)
Tg(KRT14-cre)1Efu mutation (0 available)

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

Dental and skin abnormalities and alopecia in Porcn^tm1.1Vdv/Y Tg(KRT14-cre)1Efu/0 mice

integument

abnormal hypodermis fat layer morphology ( J:186934 )

• in areas with thin skin the subcutaneous fat is directly adjacent to the outermost epidermal layers

alopecia ( J:186934 )

• have large areas of thin skin with alopecia

• mosaic pattern of the phenotype is consistent with variable Cre expression

abnormal hair follicle development ( J:186934 )

• early budding of epidermal cells to form the hair placodes does not take place

thin skin ( J:186934 )

• have large areas of thin skin with alopecia

• mosaic pattern of the phenotype is consistent with variable Cre expression

craniofacial

abnormal tooth morphology ( J:186934 )

• missing and hypoplastic teeth

adipose tissue

abnormal hypodermis fat layer morphology ( J:186934 )

• in areas with thin skin the subcutaneous fat is directly adjacent to the outermost epidermal layers

growth/size/body

abnormal tooth morphology ( J:186934 )

• missing and hypoplastic teeth

skeleton

abnormal tooth morphology ( J:186934 )

• missing and hypoplastic teeth

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Porcn^tm1.1Vdv mutation (1 available); any Porcn mutation (18 available)
Tg(KRT14-cre)1Efu mutation (0 available)

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

integument

abnormal hair growth ( J:186934 )

• barely detectable hair loss

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Porcn^tm1.1Vdv mutation (1 available); any Porcn mutation (18 available)
Tg(EIIa-cre)C5379Lmgd mutation (4 available)

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

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Porcn^tm1.1Vdv mutation (1 available); any Porcn mutation (18 available)
Tg(EIIa-cre)C5379Lmgd mutation (4 available)

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

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

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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