All Phenotypes Pofut1<tm1Pst> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pofut1^tm1Pst/Pofut1^tm1Pst	involves: 129/Sv * C57BL/6 * SJL	MGI:2662306
ht2	Pofut1^tm2Pst/Pofut1^tm1Pst	involves: 129/Sv * C57BL/6J * SJL	MGI:3653213
ht3	Pofut1^tm1Pst/Pofut1^cax	involves: 129/Sv * C57BL/6J * SJL/J	MGI:3835813
cn4	Pofut1^tm2Pst/Pofut1^tm1Pst Shh^{tm2(cre/ERT2)Cjt}/Shh⁺	involves: 129/Sv * 129S6/SvEvTac * C57BL/6J * SJL	MGI:4948658

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pofut1^tm1Pst mutation (0 available); any Pofut1 mutation (22 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:112097 )

• mutant embryos die at about E9.5

embryo

absent vitelline blood vessels ( J:83299 )

• at E9.5, vascularization of the yolk sac is virtually absent in mutant embryos

embryonic growth retardation ( J:83299 , J:112097 )

• at E9.5, homozygous mutant embryos are severely growth retarded (J:83299)

kinked neural tube ( J:83299 )

• at E8.5, mutant embryos display a markedly kinked neural tube

• however, closure of the neuropore occurs normally

abnormal somite shape ( J:83299 )

• at E8.5, mutant embryos are of normal size and appearance but somites adjacent to presomitic mesoderm are fused

• five or six condensed somites of various sizes and shapes are found above the region of fused somites

• at E9.5, sagittal sections indicate misshapen somites and disorganized fused epithelium

abnormal somite size ( J:83299 )

• at E8.5, five or six condensed somites of various sizes and shapes are found above the posterior region of fused somites

fused somites ( J:83299 )

• at E8.5, somites adjacent to presomitic mesoderm are fused

• at E9.5, sagittal sections indicate misshapen somites and disorganized fused epithelium

growth/size/body

embryonic growth retardation ( J:83299 , J:112097 )

• at E9.5, homozygous mutant embryos are severely growth retarded (J:83299)

cardiovascular system

absent intersomitic vessels ( J:83299 )

• at E9.5, intersomitic blood vessels are absent

abnormal vasculogenesis ( J:83299 )

• at E9.5, large brain and intersomitic blood vessels are absent while remaining vessels appear disorganized

absent vitelline blood vessels ( J:83299 )

• at E9.5, vascularization of the yolk sac is virtually absent in mutant embryos

abnormal heart development ( J:83299 )

• at E8.25, the heart remains unlooped and is smaller and thinner than normal

• heart development is arrested from E8.75 to E10

failure of heart looping ( J:83299 )

• no cardiac looping is evident at E8.25 or from E8.75 to E10

heart hypoplasia ( J:83299 )

• at E8.25, the heart is smaller and thinner than normal

distended pericardium ( J:83299 )

• at E9.5, mutant embryos display distended pericardial sacs

nervous system

kinked neural tube ( J:83299 )

• at E8.5, mutant embryos display a markedly kinked neural tube

• however, closure of the neuropore occurs normally

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pofut1^tm1Pst mutation (0 available); any Pofut1 mutation (22 available)
Pofut1^tm2Pst mutation (0 available); any Pofut1 mutation (22 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

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pofut1^cax mutation (1 available); any Pofut1 mutation (22 available)
Pofut1^tm1Pst mutation (0 available); any Pofut1 mutation (22 available)

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

embryo

abnormal dorsal-ventral polarity of the somites ( J:145608 )

• the disruption of the anterior-posterior somite patterning in compound heterozygotes is more severed in cax homozygotes such that at embryonic day 9.5 the somitic DLL1 stripes are essentially lost, TBX18 expression domains are fuzzy and expanded, and UNCX4.1 expression stripes are irregular and scrambled

♀	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 )

• 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

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