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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Pofut1tm2Pst
targeted mutation 2, Pamela Stanley
MGI:3617318
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		Pofut1tm2Pst/Pofut1tm1Pst involves: 129/Sv * C57BL/6J * SJL MGI:3653213
cn2
 		Pofut1tm2Pst/Pofut1tm2Pst
Tg(MMTV-cre)1Mam/0 		involves: 129P2/OlaHsd * FVB MGI:3653206
cn3
 		Pofut1tm2Pst/Pofut1tm2Pst
Tg(Prm-cre)58Og/0 		involves: 129/Sv * 129S4/SvJae * C57BL/6J * SJL MGI:8213321
cn4
 		Pofut1tm2Pst/Pofut1tm1Pst
Shhtm2(cre/ERT2)Cjt/Shh+ 		involves: 129/Sv * 129S6/SvEvTac * C57BL/6J * SJL MGI:4948658
cn5
 		Pofut1tm2Pst/Pofut1tm2Pst
Plekha5Tg(AMH-cre)1Flor/Plekha5+ 		involves: 129/Sv * C57BL/6 * C57BL/6J * SJL MGI:8213328
cn6
 		Pofut1tm2Pst/Pofut1tm2Pst
Tg(Stra8-icre)1Reb/0 		involves: 129/Sv * C57BL/6J * FVB/NJ * SJL MGI:8213323


Genotype
MGI:3653213
ht1
Allelic
Composition		 Pofut1tm2Pst/Pofut1tm1Pst
Genetic
Background		 involves: 129/Sv * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pofut1tm1Pst mutation (0 available); any Pofut1 mutation (23 available)
Pofut1tm2Pst mutation (0 available); any Pofut1 mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
embryo
abnormal vitelline vasculature morphology ( J:102175 )
• at E9.5 the embryos are surround by a yolk sac with defective vascularization
decreased embryo size ( J:102175 )
• by E9.5 embryos are reduced in size compared to wild-type
kinked neural tube ( J:102175 )
• at ~E8.5 defects in neurogenesis are apparent by the appearance of a kinked neural tube
abnormal somite shape ( J:102175 )
• at ~E8.5 defects in somitogenesis are apparent with somites that are fused or irregular in shape
fused somites ( J:102175 )
• at ~E8.5 defects in somitogenesis are apparent with somites that are fused or irregular in shape

growth/size/body
decreased embryo size ( J:102175 )
• by E9.5 embryos are reduced in size compared to wild-type

cardiovascular system
abnormal vasculogenesis ( J:102175 )
• seen by E9.5
abnormal vitelline vasculature morphology ( J:102175 )
• at E9.5 the embryos are surround by a yolk sac with defective vascularization

nervous system
kinked neural tube ( J:102175 )
• at ~E8.5 defects in neurogenesis are apparent by the appearance of a kinked neural tube




Genotype
MGI:3653206
cn2
Allelic
Composition		 Pofut1tm2Pst/Pofut1tm2Pst
Tg(MMTV-cre)1Mam/0
Genetic
Background		 involves: 129P2/OlaHsd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pofut1tm2Pst mutation (0 available); any Pofut1 mutation (23 available)
Tg(MMTV-cre)1Mam mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
endocrine/exocrine glands
abnormal mammary gland growth during pregnancy ( J:108712 )
• in transplant experiments, development lesions with respect to disorganized alveolar morphology seen in transplanted mammary tissue are indistinguishable from those observed in Rbsuhtm1Hon conditional mice
• epithelial compartment consists of densely packed cells with irregular dark nuclei

reproductive system
abnormal mammary gland growth during pregnancy ( J:108712 )
• in transplant experiments, development lesions with respect to disorganized alveolar morphology seen in transplanted mammary tissue are indistinguishable from those observed in Rbsuhtm1Hon conditional mice
• epithelial compartment consists of densely packed cells with irregular dark nuclei

integument
abnormal mammary gland growth during pregnancy ( J:108712 )
• in transplant experiments, development lesions with respect to disorganized alveolar morphology seen in transplanted mammary tissue are indistinguishable from those observed in Rbsuhtm1Hon conditional mice
• epithelial compartment consists of densely packed cells with irregular dark nuclei
epidermal cyst ( J:108712 )
• cysts containing abundant whorls of keratin are observed
hyperkeratosis ( J:108712 )
• mutant skin display hyperkeratinization

growth/size/body
epidermal cyst ( J:108712 )
• cysts containing abundant whorls of keratin are observed




Genotype
MGI:8213321
cn3
Allelic
Composition		 Pofut1tm2Pst/Pofut1tm2Pst
Tg(Prm-cre)58Og/0
Genetic
Background		 involves: 129/Sv * 129S4/SvJae * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pofut1tm2Pst mutation (0 available); any Pofut1 mutation (23 available)
Tg(Prm-cre)58Og mutation (4 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
growth/size/body region phenotype ( J:185823 )
N
• male mice show normal body weight relative to control males

reproductive system
reproductive system phenotype ( J:185823 )
N
• male mice exhibit normal litter size and testis weight with no differences in the morphology or histology of the testes or epididymides relative to control males




Genotype
MGI:4948658
cn4
Allelic
Composition		 Pofut1tm2Pst/Pofut1tm1Pst
Shhtm2(cre/ERT2)Cjt/Shh+
Genetic
Background		 involves: 129/Sv * 129S6/SvEvTac * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pofut1tm1Pst mutation (0 available); any Pofut1 mutation (23 available)
Pofut1tm2Pst mutation (0 available); any Pofut1 mutation (23 available)
Shhtm2(cre/ERT2)Cjt mutation (1 available); any Shh mutation (48 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:150051 )
• only 1 of 17 pups survived until P28
postnatal lethality, incomplete penetrance ( J:150051 )
• pups failed to thrive and died within 2-3 weeks of life

growth/size/body
decreased birth body size ( J:150051 )
• at birth, pups appeared grossly normal but were already smaller than control littermates
decreased body size ( J:150051 )
• pups failed to thrive and by P21 were much smaller than control littermates

respiratory system
respiratory system phenotype ( J:150051 )
N
• at E11.5, E14.5 and E18.5, mutant lungs showed normal gross morphology and size relative to control lungs
• no defects in the branching pattern were detected when E11.5 lungs were cultured for 24 and 48 hrs
• distal epithelium differentiation (formation of alveolar sacs and type I and type II cells) remained unaffected
• normal formation of goblet cells was observed in the trachea at birth (P0)
• the distribution and number of basal cells remained normal
lung inflammation ( J:150051 )
• by P21, isolated foci of inflammatory cells, including macrophages, were seen in the bronchiolar epithelium, unlike in control lungs
abnormal respiratory epithelium morphology ( J:150051 )
• at P7, P14 and P21, a severely attenuated airway epithelium is noted in medium-sized airways and in terminal bronchioles
• at E18.5, the respiratory epithelium was populated almost exclusively by beta-tubulin-expressing ciliated cells, unlike in control lungs where ciliated cells were interspersed with secretory Clara cells
• at E18.5, Foxj1-positive ciliated cells comprised 80-85% of the population of the airway epithelium, regardless of the airway generation, unlike in control lungs where Foxj1-expressing cells averaged 40%, 18% and 17% of epithelial cells seen in the large, medium and small airways, respectively
• at E18.5, Ki67 labeling averaged 15%, 10% and 5% of control values in large, medium and small airways, respectively, suggesting a substantial decrease in epithelial cell proliferation
abnormal bronchiole epithelium morphology ( J:150051 )
• by P21, a thin metaplastic squamous epithelium, scattered cell debris and isolated macrophages were observed instead of the typical cuboidal epithelium seen in control bronchioles
• however, none of these changes were apparent at birth or at E18.5
absent club cells ( J:150051 )
• no secretory Clara cells were detected at E18.5 and P0, as determined by specific marker expression analysis
• however, no differences in apoptosis were noted at E14.5, E18.5 and P0 lungs

immune system
lung inflammation ( J:150051 )
• by P21, isolated foci of inflammatory cells, including macrophages, were seen in the bronchiolar epithelium, unlike in control lungs

nervous system
increased solitary pulmonary neuroendocrine cell number ( J:150051 )
• at E18.5, the number of neuroendocrine cells is significantly increased in mutant airways, as shown by Pgp9.5 immunostaining

endocrine/exocrine glands
increased solitary pulmonary neuroendocrine cell number ( J:150051 )
• at E18.5, the number of neuroendocrine cells is significantly increased in mutant airways, as shown by Pgp9.5 immunostaining




Genotype
MGI:8213328
cn5
Allelic
Composition		 Pofut1tm2Pst/Pofut1tm2Pst
Plekha5Tg(AMH-cre)1Flor/Plekha5+
Genetic
Background		 involves: 129/Sv * C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
Pofut1tm2Pst mutation (0 available); any Pofut1 mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
reproductive system phenotype ( J:185823 )
N
• at 6-8 months of age, male mice exhibit normal fertility and spermatogenesis with no significant differences in litter size, cauda epididymal sperm count, testis-to-body weight ratio, or average number of apoptotic cells per 100 round tubule cross-sections relative to control males




Genotype
MGI:8213323
cn6
Allelic
Composition		 Pofut1tm2Pst/Pofut1tm2Pst
Tg(Stra8-icre)1Reb/0
Genetic
Background		 involves: 129/Sv * C57BL/6J * FVB/NJ * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pofut1tm2Pst mutation (0 available); any Pofut1 mutation (23 available)
Tg(Stra8-icre)1Reb mutation (3 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
reproductive system phenotype ( J:185823 )
N
• at 7 weeks of age, male mice exhibit normal fertility with no differences in testis morphology, testis-to-body weight ratio, number of litters, litter size, or seminiferous tubule histology relative to control males; epididymal ducts are full of sperm and indistinguishable from controls




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Send questions and comments to User Support. 		last database update
09/30/2025
MGI 6.24 		The Jackson Laboratory