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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hesx1tm2Jpmb
targeted mutation 2, Juan Pedro Martinez Barbera
MGI:3822474
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hesx1tm2Jpmb/Hesx1tm2Jpmb involves: 129S/SvEv * C57BL/6J * FVB/N MGI:3822779
ht2
Hesx1tm1Icar/Hesx1tm2Jpmb involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * FVB/N MGI:3822780
cn3
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+
Hesx1tm1(cre)Jpmb/Hesx1tm2Jpmb
involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6 * FVB/N MGI:3822877


Genotype
MGI:3822779
hm1
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




Genotype
MGI:3822780
ht2
Allelic
Composition
Hesx1tm1Icar/Hesx1tm2Jpmb
Genetic
Background
involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hesx1tm1Icar mutation (0 available); any Hesx1 mutation (11 available)
Hesx1tm2Jpmb mutation (0 available); any Hesx1 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 26% of embryos analyzed show reduced telencephalic tissue at 12.5-14.5 dpc (days post coitum)
• severity and frequency of forebrain defects are increased in double heterozygotes, due to Hesx1 dosage decrease

vision/eye
• all embryos analyzed display severe bilateral microphthalmia or anophthalmia between 12.5 and 14.5 dpc
• some affected embryos also show reduction in telencephalic tissue
• all embryos analyzed display severe bilateral microphthalmia or anophthalmia between 12.5 and 14.5 dpc
• some affected embryos also show reduction in telencephalic tissue




Genotype
MGI:3822877
cn3
Allelic
Composition
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+
Hesx1tm1(cre)Jpmb/Hesx1tm2Jpmb
Genetic
Background
involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1Sor mutation (8 available); any Gt(ROSA)26Sor mutation (758 available)
Hesx1tm1(cre)Jpmb mutation (0 available); any Hesx1 mutation (11 available)
Hesx1tm2Jpmb mutation (0 available); any Hesx1 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• anterior to posterior cell fate transformation is detected at 10 days post coitum, resulting in anterior forebrain reduction





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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
05/10/2022
MGI 6.19
The Jackson Laboratory