Phenotypes associated with this allele

• Allele Symbol: Otx2^tm1Sla
• Allele Name: targeted mutation 1, Siew Lan Ang
• Allele ID: MGI:1857502
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Otx2^tm1Sla/Otx2^tm1Sla	involves: 129S1/Sv * 129X1/SvJ	MGI:3663274
hm2	Otx2^tm1Sla/Otx2^tm1Sla	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:2166442
ht3	Otx2^tm1Sla/Otx2^+	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:3663263
ht4	Otx2^tm1Sla/Otx2^tm2Sla	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:3845407

Genotype
MGI:3663274

hm1

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

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

embryo

abnormal rostral-caudal axis patterning ( J:74124 )

• A-P axis appears to be aligned incorrectly and the anterior pole of the axis remains in the distal region of the embryo

abnormal primitive streak formation ( J:74124 )

• the streak is incorrectly positioned in the proximal region of the epiblast

abnormal primitive streak elongation ( J:74124 )

• primitive streak does not extend the full length of the posterior side of the embryo

Genotype
MGI:2166442

hm2

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

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

Genotype
MGI:3663263

ht3

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:30828 )

• slightly lower numbers of heterozygotes are obtained at 3 weeks of age than expected

nervous system

open neural tube ( J:30828 )

• open at the forebrain and midbrain levels

embryo

open neural tube ( J:30828 )

• open at the forebrain and midbrain levels

Genotype
MGI:3845407

ht4

• Allelic Composition: Otx2^tm1Sla/Otx2^tm2Sla
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

nervous system

abnormal hindbrain development ( J:46641 )

• as determined by marker expression, the anterior hindbrain tissue corresponding to rhombomere 1 appears but is subsequently deleted unlike in wild-type mice

absent midbrain ( J:46641 )

• as determined by marker expression, the midbrain fails to form

absent forebrain ( J:46641 )

• as determined by marker expression, the forebrain fails to form