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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Porcntm1.2Lcm
targeted mutation 1.2, Lewis Murtaugh
MGI:6368150
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Porcntm1.2Lcm/Porcntm1.2Lcm involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * DBA/2 MGI:6368188
ht2
Porcntm1.1Lcm/Porcntm1.2Lcm involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 MGI:6368182
cn3
Porcntm1.1Lcm/Porcntm1.2Lcm
Tg(Six3-cre)69Frty/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * DBA/2 MGI:6368181


Genotype
MGI:6368188
hm1
Allelic
Composition
Porcntm1.2Lcm/Porcntm1.2Lcm
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:
Porcntm1.2Lcm mutation (0 available); any Porcn mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• limb atrophy
• absence of digits in the forelimb

craniofacial

vision/eye
• severe to mild loss of pigment in the dorsal retina pigmented epithelium
• open eyelids in some mice between E16.5 and E18.0 in all mice
• at E13.5

nervous system

embryo

pigmentation
• 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:6368182
ht2
Allelic
Composition
Porcntm1.1Lcm/Porcntm1.2Lcm
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Porcntm1.1Lcm mutation (0 available); any Porcn mutation (18 available)
Porcntm1.2Lcm mutation (0 available); any Porcn mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• severe to mild loss of pigment in the dorsal retina pigmented epithelium
• open eyelids in some mice between E16.5 and E18.0 in some mice
• in some mice

nervous system

craniofacial

pigmentation
• 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:6368181
cn3
Allelic
Composition
Porcntm1.1Lcm/Porcntm1.2Lcm
Tg(Six3-cre)69Frty/0
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:
Porcntm1.1Lcm mutation (0 available); any Porcn mutation (18 available)
Porcntm1.2Lcm mutation (0 available); any Porcn mutation (18 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial

vision/eye
• severe to mild loss of pigment in the dorsal retina pigmented epithelium
• open eyelids in some mice between E16.5 and E18.0 in all mice
• at E13.5

growth/size/body

nervous system

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

integument

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





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory