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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hesx1tm3Jpmb
targeted mutation 3, Juan Pedro Martinez Barbera
MGI:3822475
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hesx1tm3Jpmb/Hesx1tm3Jpmb involves: 129S/SvEv * C57BL/6J * FVB/N MGI:3822781
ht2
Hesx1tm1Icar/Hesx1tm3Jpmb involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * FVB/N MGI:3822896
cn3
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+
Hesx1tm1(cre)Jpmb/Hesx1tm3Jpmb
involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6 * FVB/N MGI:3822876


Genotype
MGI:3822781
hm1
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




Genotype
MGI:3822896
ht2
Allelic
Composition
Hesx1tm1Icar/Hesx1tm3Jpmb
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)
Hesx1tm3Jpmb mutation (0 available); any Hesx1 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• phenotype is stated to be identical to that of Hesx1tm1Icar homozygotes; however no data are presented
• severity of defects is similar to that seen in Hesx1tm3Jpmb homozygotes




Genotype
MGI:3822876
cn3
Allelic
Composition
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+
Hesx1tm1(cre)Jpmb/Hesx1tm3Jpmb
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)
Hesx1tm3Jpmb 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
• alterations are more severe than observed in corresponding Hesx1tm2Jpmb compound mutants





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
05/10/2022
MGI 6.19
The Jackson Laboratory