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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pcsk6tm1Rob
targeted mutation 1, Elizabeth J Robertson
MGI:2181754
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pcsk6tm1Rob/Pcsk6tm1Rob involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3054402
cx2
Furintm1Ajmr/Furintm1Ajmr
Pcsk6tm1Rob/Pcsk6tm1Rob
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3054403


Genotype
MGI:3054402
hm1
Allelic
Composition
Pcsk6tm1Rob/Pcsk6tm1Rob
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pcsk6tm1Rob mutation (0 available); any Pcsk6 mutation (94 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• crossed to wild type males most litters are produced by 6 months with fewer between 6 and 9 months while controls produced litters at a uniform rate through 9 months
• median age for last litter is 8 months compared to 10 months for controls
• FSH levels are prematurely elevated at 9 months of age while LH levels are normal

cardiovascular system
• apparent by E13.5
• E9.5 reversal of direction of heart looping and/or embryo turning
• apparent by E13.5
• common left or right atrium by E13.5
• apparent by E13.5
• single ventricular chamber by E13.5
• apparent by E13.5

craniofacial
• absent lower and upper jaws
• maxillary and mandibular components of first branchial arch fused between E13.5-E15.5

digestive/alimentary system
• foregut truncated anteriorly

embryo
• maxillary and mandibular components of first branchial arch fused between E13.5-E15.5
• right-sided stomach, spleen, pancreas
• reversed liver situs, hyposplenia
• axial midline truncated

skeleton
• absent lower and upper jaws

vision/eye
• mice often born with one eye
• the second eye socket is empty

nervous system
• anterior CNS truncation
• absent between E13.5 and E15.5

respiratory system

growth/size/body
• increased presence at all ages
• proteinaceous
• hemorrhagic
• epithelial inclusion cysts with 1-5 layers of columnar or cuboidal epithelial cells

reproductive system
• increased instances of lack of follicles at all ages
• increased presence at all ages
• proteinaceous
• hemorrhagic
• epithelial inclusion cysts with 1-5 layers of columnar or cuboidal epithelial cells
• crossed to wild type males most litters are produced by 6 months with fewer between 6 and 9 months while controls produced litters at a uniform rate through 9 months
• median age for last litter is 8 months compared to 10 months for controls
• FSH levels are prematurely elevated at 9 months of age while LH levels are normal
• 11% of females with tubulostromal adenomas - dilated mass of tubules lined with non-ciliated cuboidal epithelium
• presence of tumors obliterates ovarian architecture
• 80% of mice between 6 and 14 months of age with some sort of abnormal ovary morphology
• cyst adenomas
• granulosa cell tumors
• interval between litters is 32.4 days compared to 23.5 days for controls
• only 58% of females cycling regularly at 7 months and 16% at 9-10 months compared to normal cycling in controls through 13 months
• superovulation response is significantly reduced at 3 months relative to controls but normal at 30 days

neoplasm
• 11% of females with tubulostromal adenomas - dilated mass of tubules lined with non-ciliated cuboidal epithelium
• presence of tumors obliterates ovarian architecture
• 80% of mice between 6 and 14 months of age with some sort of abnormal ovary morphology
• cyst adenomas
• granulosa cell tumors
• Luteomas as early as 3 months compared to 9 months in controls

endocrine/exocrine glands
• increased instances of lack of follicles at all ages
• 80% of mice between 6 and 14 months of age with some sort of abnormal ovary morphology
• cyst adenomas
• granulosa cell tumors
• increased presence at all ages
• proteinaceous
• hemorrhagic
• epithelial inclusion cysts with 1-5 layers of columnar or cuboidal epithelial cells




Genotype
MGI:3054403
cx2
Allelic
Composition
Furintm1Ajmr/Furintm1Ajmr
Pcsk6tm1Rob/Pcsk6tm1Rob
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Furintm1Ajmr mutation (0 available); any Furin mutation (48 available)
Pcsk6tm1Rob mutation (0 available); any Pcsk6 mutation (94 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

embryo
• by E7.5, mutant embryos are 30-50% smaller than wild-type
• delayed cavitation to E6.5
• epiblast and extraembryonic ectoderm are shortened by E6.5
• by E7.5, a disorganized, rudimentary primitive streak is shown to bulge into the amniotic cavity
• the proximal epiblast region forms a disorganized primitive streak that fails to elongate
• at E7.5
• at E7.5
• at E7.5
• epiblast and extraembryonic ectoderm are shortened by E6.5
• failure to form chorion, allantois or amnion by E7.5

growth/size/body
• by E7.5, mutant embryos are 30-50% smaller than wild-type





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory