Phenotypes associated with this allele

• Allele Symbol: Pierce1^{Gt(OST3440)Lex}
• Allele Name: gene trap OST3440, Lexicon Genetics
• Allele ID: MGI:4133392
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pierce1^Gt(OST3440)Lex/Pierce1^Gt(OST3440)Lex	either: (involves: 129S5/SvEvBrd * C57BL/6J) or (involves: 129S5/SvEvBrd * C57BL/6J * FVB/N)	MGI:6114978

Genotype
MGI:6114978

hm1

• Allelic Composition: Pierce1^{Gt(OST3440)Lex}/Pierce1^{Gt(OST3440)Lex}
• Genetic Background: either: (involves: 129S5/SvEvBrd * C57BL/6J) or (involves: 129S5/SvEvBrd * C57BL/6J * FVB/N)

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:252050 )

• at E13.5 and E14.5, most embryos are recovered at the expected Mendelian ratio, but 10 out of 30 embryos are found dead at E14.5

• specifically, mice with isomerisms die in utero due to various associated cardiovascular malformations

growth/size/body

heterotaxia ( J:252050 )

• at E13.5, 9 of 20 embryos display various forms of heterotaxy including left pulmonary isomerism (LPI) and right pulmonary isomerism (RPI), with associated cardiac anomalies

right-sided stomach ( J:252050 )

• at E13.5, some heterotaxy mutants as well as mutants with situs inversus totalis (SI) show a right-sided stomach

left pulmonary isomerism ( J:252050 )

• at E14.5, some of the dead mutant embryos show bilateral unilobed lungs (left pulmonary isomerism, LPI)

• at E13.5, 3 of 9 embryos with heterotaxy show LPI

right pulmonary isomerism ( J:252050 )

• at E14.5, some of the dead mutant embryos show bilateral tetralobed lungs (right pulmonary isomerism, RPI)

• at E13.5, 3 of 9 embryos with heterotaxy show RPI

situs inversus totalis ( J:252050 )

• 41% of surviving adults show situs inversus totalis (SI) without isomerisms; mice with SI display complete mirror-image reversal of the position of the heart, stomach, spleen, and kidney along the left-right axis as well as mirror-imaged inversion of the lobulation patterns of the lung and the liver

• at E13.5, 2 of 20 embryos display situs inversus totalis (SI)

embryo

abnormal left-right axis patterning ( J:252050 )

• at E13.5 and E14.5, embryos display a wide spectrum of laterality defects, including situs inversus totalis (SI) and left and right isomerisms

• laterality defects are correlated with randomized expression of Nodal and its downstream genes, Lefty1/2 and Pitx2

abnormal lateral plate mesoderm morphology ( J:252050 )

• at E8.0, embryos show randomized expression of Nodal, Lefty2, and Pitx2 in the lateral plate mesoderm; Lefty1 expression is down-regulated in the midline

abnormal primitive node morphology ( J:252050 )

• embryos with 3-5 somites show loss of asymmetric expression of Dand5 (aka Cerl2) in the embryonic node; expression of Dand5 (the earliest responding gene to leftward flow) in the node is bilateral rather than dominant on the right-side of the node as in control embryos, suggesting defects in generating a symmetry breaking signal including leftward nodal flow

• however, no obvious ciliary malformation is observed in the embryonic nodes at E7.5

respiratory system

abnormal lung lobe morphology ( J:252050 )

• at E13.5, 1 of 9 embryos with heterotaxy has a normal lung lobation pattern without a postcaval lobe

abnormal lung position or orientation ( J:252050 )

• at E13.5 and E14.5, the lungs of embryos with SI show a mirror image of the normal lung pattern

• ~50% of E14.5 embryos show left pulmonary isomerism or right pulmonary isomerism

left pulmonary isomerism ( J:252050 )

• at E14.5, some of the dead mutant embryos show bilateral unilobed lungs (left pulmonary isomerism, LPI)

• at E13.5, 3 of 9 embryos with heterotaxy show LPI

right pulmonary isomerism ( J:252050 )

• at E14.5, some of the dead mutant embryos show bilateral tetralobed lungs (right pulmonary isomerism, RPI)

• at E13.5, 3 of 9 embryos with heterotaxy show RPI

cardiovascular system

left sided inferior vena cava ( J:252050 )

• at E13.5, 4 of 9 embryos with heterotaxy and all embryos with SI exhibit reversal of the inferior vena cava to the left side

abnormal heart morphology ( J:252050 )

• at E13.5, most embryos with SI or heterotaxy display various cardiac anomalies

persistent truncus arteriosus ( J:252050 )

• at E14.5, most of the dead mutant embryos show persistent truncus arteriosus in great arteries

abnormal mitral valve morphology ( J:252050 )

• at E13.5, most embryos with SI or heterotaxy display mitral valve defects

dilated heart atrium ( J:252050 )

• at E13.5, most embryos with SI or heterotaxy display dilated atria

dextrocardia ( J:252050 )

• at E13.5, 4 of 20 embryos display dextrocardia

mesocardia ( J:252050 )

• at E13.5, 4 of 20 embryos display mesocardia

ventricular septal defect ( J:252050 )

• at E13.5, most embryos with SI or heterotaxy display interventricular septal defects

heart hypoplasia ( J:252050 )

• at E13.5, most embryos with SI or heterotaxy display hypoplastic heart defects

abnormal heart left ventricle morphology ( J:252050 )

• at E13.5, most embryos with SI or heterotaxy display atrophy of the left ventricle

digestive/alimentary system

right-sided stomach ( J:252050 )

• at E13.5, some heterotaxy mutants as well as mutants with situs inversus totalis (SI) show a right-sided stomach

hematopoietic system

abnormal spleen morphology ( J:252050 )

• mice with SI display a right-sided spleen

immune system

abnormal spleen morphology ( J:252050 )

• mice with SI display a right-sided spleen

liver/biliary system

abnormal liver lobule morphology ( J:252050 )

• mice with SI display mirror-imaged inversion of the lobulation patterns of the liver

renal/urinary system

abnormal kidney morphology ( J:252050 )

• mice with SI display reversed rostral-caudal arrangement of the kidneys