Phenotypes associated with this allele

• Allele Symbol: Pxn^tm1Smth
• Allele Name: targeted mutation 1, Sheila M Thomas
• Allele ID: MGI:2158458
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pxn^tm1Smth/Pxn^tm1Smth	either: (involves: 129S4/SvJaeSor * C57BL/6) or (involves: 129/Sv)	MGI:3039802

Genotype
MGI:3039802

hm1

• Allelic Composition: Pxn^tm1Smth/Pxn^tm1Smth
• Genetic Background: either: (involves: 129S4/SvJaeSor * C57BL/6) or (involves: 129/Sv)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:73970 )

• no homozygous null embryos were detected after E9.5; any homozygous null embryos detected at E9.5 appeared abnormal

• viable but abnormal homozygous null embryos were detected at E7.5 to E8.5

cardiovascular system

abnormal dorsal aorta morphology ( J:73970 )

• mutant embryos lacked a dorsal aorta

absent cardiogenic plate ( J:73970 )

• at E8-E8.5, homozygous mutant mice lacked a cardiogenic plate; no obvious heart structure was observed

abnormal heart development ( J:73970 )

• at E8-E8.5, homozygous mutant mice lacked a cardiogenic plate; no obvious heart structure was observed

• a small percentage of mutant embryos displayed definitive but abnormal heart structures

• in vitro culturing of mutant embryos resulted in the development of beating cardiac myocytes

cellular

cellular phenotype ( J:73970 )

N • primary cells cultured from homozygous mutant E7.5 embryos and plated on fibronectin exhibited abnormal focal adhesions, defective lamellipodium formation, an abnormal cortical cytoskeleton, decreased tyrosine phosphorylation of focal adhesion kinase (FAK) and Cas, decreased efficiency of FAK localization to focal adhesions, decreased activation of mitogen-activated protein kinase (MAPK), a decreased rate of spreading, and decreased cell migration

digestive/alimentary system

abnormal foregut morphology ( J:73970 )

• at E8.5, the endodermal lining of the mutant foregut remained open

embryo

decreased embryo size ( J:73970 )

• at E8.5, homozygous mutant mice were significantly smaller than wild-type embryos

absent notochord ( J:73970 )

• at E8.5, homozygous mutant embryos lacked an organized notochord

abnormal dorsal-ventral polarity of the somites ( J:73970 )

• at E8.5, mutant embryos exhibited truncation of the anterior-posterior axis, and lacked organized somites in caudal sections; in contrast, the primitive streak and adjacent mesodermal cells appeared normal

abnormal allantois morphology ( J:73970 )

• at E7.5, the mutant allantois appeared malformed and moved anteriorly rather than dorsally towards the chorion

abnormal amnion morphology ( J:73970 )

• at E7.5, the mutant amnion was collapsed on the embryo

growth/size/body

decreased embryo size ( J:73970 )

• at E8.5, homozygous mutant mice were significantly smaller than wild-type embryos