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Phenotypes Associated with This Genotype
Genotype
MGI:3822779
Allelic
Composition
Hesx1tm2Jpmb/Hesx1tm2Jpmb
Genetic
Background
involves: 129S/SvEv * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hesx1tm2Jpmb mutation (0 available); any Hesx1 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 75% of mutants surviving to weaning age display eye defects
• between days 12.5-17.5, 73% of embryos display eye defects
• 73% of mice at weaning show unilateral or bilateral microphthalmia
• unilateral or bilateral microphthalmia is observed in 59.6% of embryos analyzed between 12.5-17.5 dpc
• anophthalmia is observed in 16.7% of embryos analyzed between 12.5-17.5 dpc

endocrine/exocrine glands
• embryos with normal eyes up to embryos with bilateral anophthalmia but with a normal telencephalon have an enlarged, bifurcated anterior pituitary, often connected to the oral cavity
• this is the type I phenotype, which is the single pituitary phenotype observed in these animals
• in embryos displaying severe craniofacial defects at 15.5-17.5 dpc, a defined pituitary gland can not be recognized at its normal location
• pituitary defects are fully penetrant

nervous system
• embryos with normal eyes up to embryos with bilateral anophthalmia but with a normal telencephalon have an enlarged, bifurcated anterior pituitary, often connected to the oral cavity
• this is the type I phenotype, which is the single pituitary phenotype observed in these animals
• in embryos displaying severe craniofacial defects at 15.5-17.5 dpc, a defined pituitary gland can not be recognized at its normal location
• pituitary defects are fully penetrant

craniofacial
• at 15.5-17.5 dpc, some embryos exhibit severe craniofacial defects

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
01/12/2022
MGI 6.17
The Jackson Laboratory