Phenotypes associated with this allele

• Allele Symbol: Otx2^{tm1(OTX1)Asim}
• Allele Name: targeted mutation 1, Antonio Simeone
• Allele ID: MGI:2153202
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Otx2^tm1(OTX1)Asim/Otx2^tm1(OTX1)Asim	involves: 129P2/OlaHsd * C57BL/6 * DBA/2	MGI:3845480
cx2	Gbx2^tm1.1Mrt/Gbx2^tm1.1Mrt Otx2^tm1(OTX1)Asim/Otx2^tm1(OTX1)Asim	involves: 129 * C57BL/6 * DBA/2	MGI:3845545

Genotype
MGI:3845480

hm1

• Allelic Composition: Otx2^{tm1(OTX1)Asim}/Otx2^{tm1(OTX1)Asim}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

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

nervous system

abnormal embryonic neuroepithelium morphology ( J:49817 )

• at E8.5, the rostral neuroectoderm is reduced, abnormally folded, and lacks prosencephalic features unlike in wild-type mice

• while initial patterning of the anterior neuroectoderm occurs it is not maintained as in wild-type mice

abnormal forebrain development ( J:49817 )

• as determined by marker expression, mice lack forebrain regional identities unlike in wild-type mice

abnormal midbrain development ( J:49817 )

• as determined by marker expression, mice lack midbrain regional identities unlike in wild-type mice

embryo

abnormal first pharyngeal arch morphology ( J:49817 )

• the maxillary process and mandibular arch are heavily impaired and extremely reduced in 50% of mice compared to in wild-type mice

rostral body truncation ( J:49817 )

• at E10.5, mice lack head structures rostral to the presumptive rhombomere 1 unlike wild-type mice; however, the body axis is normal

• 50% of expected mice reach the end of gestation with a headless phenotype with 15% of them exhibiting residual, heavily abnormal craniofacial structures

• 35% of mice reach the end of gestation with normal body axis and loss of anterior head structures

abnormal cephalic neural fold morphology ( J:49817 )

• at E8.5, mice exhibit a slight reduction in neuroectodermal headfolds compared with wild-type mice

abnormal embryonic neuroepithelium morphology ( J:49817 )

• at E8.5, the rostral neuroectoderm is reduced, abnormally folded, and lacks prosencephalic features unlike in wild-type mice

• while initial patterning of the anterior neuroectoderm occurs it is not maintained as in wild-type mice

craniofacial

abnormal craniofacial development ( J:49817 )

• 50% of expected mice reach the end of gestation with a headless phenotype with 15% of them exhibiting residual, heavily abnormal craniofacial structures

abnormal maxillary prominence morphology ( J:49817 )

• the maxillary process and mandibular arch are heavily impaired and extremely reduced in 50% of mice compared to in wild-type mice

abnormal first pharyngeal arch morphology ( J:49817 )

• the maxillary process and mandibular arch are heavily impaired and extremely reduced in 50% of mice compared to in wild-type mice

growth/size/body

abnormal anterior head development ( J:49817 )

• at E10.5, mice lack head structures rostral to the presumptive rhombomere 1 unlike wild-type mice

• 35% of mice reach the end of gestation with normal body axis and loss of anterior head structures

acephaly ( J:49817 )

• 50% of expected mice reach the end of gestation with a headless phenotype

Genotype
MGI:3845545

cx2

• Allelic Composition: Gbx2^tm1.1Mrt/Gbx2^tm1.1Mrt; Otx2^{tm1(OTX1)Asim}/Otx2^{tm1(OTX1)Asim}
• Genetic Background: involves: 129 * C57BL/6 * DBA/2

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:72725 )

• although present at E9.5, no mice are detected at E10 to E10.5

nervous system

abnormal neural plate morphology ( J:72725 )

• at E9.7, mice fail to exhibit regionalization of the anterior neural plate unlike wild-type mice

• at E9.7, the distance between the otic vesicle and the rostral tip of the embryo is greater than in wild-type embryos

abnormal neural tube morphology ( J:72725 )

abnormal embryonic neuroepithelium morphology ( J:72725 )

• at E9.7, the anterior neuroectoderm is abnormal

absent embryonic telencephalon ( J:72725 )

• at E9.7, telencephalic vesicles are not recognizable

absent midbrain-hindbrain boundary ( J:72725 )

• at E9.7, the isthmic constriction is not recognizable

exencephaly ( J:72725 )

cardiovascular system

abnormal heart morphology ( J:72725 )

• at E9.7

dilated heart ( J:72725 )

• at E9.7

embryo

absent pharyngeal arches ( J:72725 )

• at E9.7

decreased embryo size ( J:72725 )

abnormal neural plate morphology ( J:72725 )

• at E9.7, mice fail to exhibit regionalization of the anterior neural plate unlike wild-type mice

• at E9.7, the distance between the otic vesicle and the rostral tip of the embryo is greater than in wild-type embryos

abnormal neural tube morphology ( J:72725 )

abnormal embryonic neuroepithelium morphology ( J:72725 )

• at E9.7, the anterior neuroectoderm is abnormal

craniofacial

absent nasal placodes ( J:72725 )

• at E9.7

absent pharyngeal arches ( J:72725 )

• at E9.7

growth/size/body

decreased embryo size ( J:72725 )

respiratory system

absent nasal placodes ( J:72725 )

• at E9.7

taste/olfaction

absent nasal placodes ( J:72725 )

• at E9.7

vision/eye

absent optic placodes ( J:72725 )

• at E9.7, the optic placodes are absent

absent optic vesicle ( J:72725 )

• at E9.7, optic vesicles are not recognizable