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Phenotypes Associated with This Genotype
Genotype
MGI:3822781
Allelic
Composition
Hesx1tm3Jpmb/Hesx1tm3Jpmb
Genetic
Background
involves: 129S/SvEv * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hesx1tm3Jpmb mutation (0 available); any Hesx1 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• at weaning, less than 5% of animals are homozygous mutants instead of expected 25%

vision/eye
• all surviving homozygotes display eye defects, typically bilateral microphthalmia or anophthalmia
• all surviving homozygotes display eye defects, typically bilateral microphthalmia or anophthalmia

endocrine/exocrine glands
• pituitary defects are fully penetrant
• some have an enlarged, bifurcated anterior pituitary, often connected to the oral cavity
• this is the type I phenotype, which is the pituitary phenotype observed in some (>50%) animals
• in some embryos at 12.5 dpc, development of Rathke's pouch is delayed (by about 1 day); pouch remains embedded within oral ectoderm and appears rostrally expanded
• this is the type II phenotype, always associated with a lack of anterior forebrain tissue
• type II phenotype is associated with a delay in Rathke's pouch development, impaired basisphenoid cartilage development, and ectopic pituitary in the nasopharynx
• in embryos displaying severe craniofacial defects at 15.5-17.5 dpc, a defined pituitary gland can not be recognized at its normal location

nervous system
• embryos at 17.5 dpc and surviving adult mutants exhibit abnormal development of telencephalic commissural tracts
• agenesis or hypoplasia is observed in embryos at 17.5 dpc and surviving adults (78%)
• forebrain defects are observed
• pituitary defects are fully penetrant
• some have an enlarged, bifurcated anterior pituitary, often connected to the oral cavity
• this is the type I phenotype, which is the pituitary phenotype observed in some (>50%) animals
• in some embryos at 12.5 dpc, development of Rathke's pouch is delayed (by about 1 day); pouch remains embedded within oral ectoderm and appears rostrally expanded
• this is the type II phenotype, always associated with a lack of anterior forebrain tissue
• type II phenotype is associated with a delay in Rathke's pouch development, impaired basisphenoid cartilage development, and ectopic pituitary in the nasopharynx
• in embryos displaying severe craniofacial defects at 15.5-17.5 dpc, a defined pituitary gland can not be recognized at its normal location
• reduced anterior forebrain tissue is found associated with Rathke's pouch abnormalities
• significant reduction in telencephalic tissue is detected in severely affected embryos
• telencephalic vesicles are normal in some embryos but are reduced in other embryos
• agenesis or hypoplasia is observed in embryos at 17.5 dpc and surviving adults (78%)

craniofacial
• frontonasal mass is defective or absent in >25% of embryos examined at 12.5-17.5 dpc
• frontonasal mass is defective or absent in >25% of embryos examined at 12.5-17.5 dpc

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
septooptic dysplasia DOID:0060857 OMIM:182230
J:142649


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/18/2022
MGI 6.17
The Jackson Laboratory