Phenotypes associated with this allele

• Allele Symbol: Pofut1^tm2Pst
• Allele Name: targeted mutation 2, Pamela Stanley
• Allele ID: MGI:3617318
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Pofut1^tm2Pst/Pofut1^tm1Pst	involves: 129/Sv * C57BL/6J * SJL	MGI:3653213
cn2	Pofut1^tm2Pst/Pofut1^tm2Pst Tg(MMTV-cre)1Mam/0	involves: 129P2/OlaHsd * FVB	MGI:3653206
cn3	Pofut1^tm2Pst/Pofut1^tm1Pst Shh^tm2(cre/ERT2)Cjt/Shh^+	involves: 129/Sv * 129S6/SvEvTac * C57BL/6J * SJL	MGI:4948658

Genotype
MGI:3653213

ht1

• Allelic Composition: Pofut1^tm2Pst/Pofut1^tm1Pst
• Genetic Background: involves: 129/Sv * C57BL/6J * SJL

• ♀: 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

abnormal heart development ( J:102175 )

• seen by E9.5

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: Pofut1^tm2Pst/Pofut1^tm2Pst; Tg(MMTV-cre)1Mam/0
• Genetic Background: involves: 129P2/OlaHsd * FVB

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 Rbsuh^tm1Hon 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 Rbsuh^tm1Hon conditional mice

♀ • epithelial compartment consists of densely packed cells with irregular dark nuclei

integument

abnormal mammary gland growth during pregnancy ( J:108712 )

♀ • epithelial compartment consists of densely packed cells with irregular dark nuclei

♀ • in transplant experiments, development lesions with respect to disorganized alveolar morphology seen in transplanted mammary tissue are indistinguishable from those observed in Rbsuh^tm1Hon conditional mice

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:4948658

cn3

• Allelic Composition: Pofut1^tm2Pst/Pofut1^tm1Pst; Shh^{tm2(cre/ERT2)Cjt}/Shh⁺
• Genetic Background: involves: 129/Sv * 129S6/SvEvTac * C57BL/6J * SJL

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

N • no defects in the branching pattern were detected when E11.5 lungs were cultured for 24 and 48 hrs

N • distal epithelium differentiation (formation of alveolar sacs and type I and type II cells) remained unaffected

N • normal formation of goblet cells was observed in the trachea at birth (P0)

N • 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