Phenotypes Associated with This Genotype

Genotype
MGI:2166442

• Allelic Composition: Otx2^tm1Sla/Otx2^tm1Sla
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:30828 )

• lethality around E10.5

embryo

abnormal developmental patterning ( J:30828 )

• more severely affected mutants (those excluded from the yolk sac) are wrapped up anteriorly in definitive endoderm

• some of the more severely affected mutants (those excluded from the yolk sac) are spiral-shaped and show no sign of organogenesis

abnormal gastrulation ( J:30828 )

• severe early gastrulation defects

abnormal ectoderm development ( J:30828 )

• ectodermal cells appear disorganized and lose their characteristic epithelial structure at E7.25-E7.5

abnormal mesoderm development ( J:30828 )

• exhibit abnormal accumulation of mesoderm cells in the proximal region between the embryonic and extraembryonic regions

rostral body truncation ( J:30828 )

• severe anterior truncations, with absence of anterior brain regions rostral to rhombomere 3

embryonic growth retardation ( J:30828 )

decreased embryo size ( J:30828 )

abnormal axial mesoderm morphology ( J:30828 )

• axial mesoderm defects

absent prechordal mesoderm ( J:30828 )

• prechordal mesoderm fails to develop at E7.5

abnormal neural tube morphology ( J:30828 )

• at 7.75, the headfolds at the rostral end are not apparent

• less severely affected mutants (those enclosed in the yolk sac), the neural tube looks abnormal with either numerous folds or a single fused structure instead of the open neural folds

abnormal notochord morphology ( J:30828 )

• notochord development is incomplete at E7.5

abnormal primitive streak formation ( J:30828 )

• lack proper primitive streak organization

abnormal somite shape ( J:30828 )

• some show irregularly shaped somites

fused somites ( J:30828 )

• some show abnormal somites fused at the midline

impaired somite development ( J:30828 )

• more severely affected mutants (those excluded from the yolk sac) show improper or no segmentation of mesoderm into somites

embryonic-extraembryonic boundary constriction ( J:30828 )

• some embryos fail to become enclosed by the visceral yolk sac by E8.5 due to severe constriction between embryonic and extraembryonic region

abnormal allantois morphology ( J:30828 )

• allantois is poorly developed, forms a round ball of cells and is often disconnected from the embryonic portion

abnormal visceral yolk sac morphology ( J:30828 )

• yolk sac appears abnormal

• the yolk sac constricts in the position normally occupied by the amnion, isolating the extraembryonic from the embryonic region

abnormal visceral yolk sac endoderm morphology ( J:30828 )

• displays a ruffled appearance in the endoderm layer

abnormal visceral yolk sac mesenchyme morphology ( J:30828 )

• reduced, discontinuous extraembryonic mesoderm layer

growth/size/body

embryonic growth retardation ( J:30828 )

decreased embryo size ( J:30828 )

nervous system

abnormal neural tube morphology ( J:30828 )

• at 7.75, the headfolds at the rostral end are not apparent

• less severely affected mutants (those enclosed in the yolk sac), the neural tube looks abnormal with either numerous folds or a single fused structure instead of the open neural folds

abnormal brain development ( J:30828 )

• deletion of anterior brain regions rostral to rhombomere 3

absent midbrain ( J:30828 )

• midbrain is missing

absent forebrain ( J:30828 )

• forebrain is missing

absent metencephalon ( J:30828 )

• anterior hindbrain is missing