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Phenotypes Associated with This Genotype
Genotype
MGI:2175062
Allelic
Composition
Hesx1tm1Icar/Hesx1tm1Icar
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hesx1tm1Icar mutation (0 available); any Hesx1 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most severely affected pups only die shortly after birth
• 75% of mice dead by 3 weeks

nervous system
• the vomeronasal organs are reduced
• at E11.5 and E12.5, in mildly affected mice the neuroepithelium is thin compared to in wild-type and heterozygous mice
• at E12.5, in severely affected mice Rathke's pouch is absent
• all mice display defects in Rathke's pouch such that it is abnormally bifurcated
• the anterior lobe of the pituitary is smaller than in wild-type mice and less intimately associated with the posterior lobe
• at E12.5, severely affected mice display no sign of infundibulum development
• at E8.5, prospective forebrain tissue is reduced
• forebrain defects are variable between hemispheres and mice
• at E12.5, severely affected mice display reduced forebrain size with no sign of telencephalic vesicles
• nerve fibers are present but fail to cross the midline
• defects are more pronouced on one side of the mice than the other
• many mice display a disruption of left-right asymmetry of the telecephalic vessicle, eye, and olfactory placode
• severely affected mice (5%) lack or exhbit a reduction in telencephalic vesicles, olfactory placodes and frontonasal mass (J:47920)
• at E11.5 and E12.5, mildly affected mice display reduced telencephalic vesicles (J:47920)
• however, mildly affected mice exhibit normal medial and lateral ganglionic eminences (J:47920)
• telencephalic vesicles are reduced in size at 12.5 dpc (J:142649)
• at 9.5 dpc (days post coitum), elevated apoptosis is observed relative to wild-type at level of midbrain-hindbrain boundary
• forebrain reduction is variable depending on the severity of phenotype (J:47920)
• at E12.5, severely affected mice display reduced forebrain size with no sign of telencephalic vesicles (J:47920)
• reduction of anterior forebrain (AFB) tissue is detected at 8- to 10-somite (8.5 dpc) stage, based upon expression of markers Six3, Pax2, Pax6 and Fgf8 (J:135132)
• at presomitic stages, expression domains of these markers are identical to controls (J:135132)
• the dorsal and ventral hippocampal commissures are absent in 2 of 3 mice that also lacked the anterior commissure and the corpus callosum
• absent in 3 of 4 mice
• all mice display ventral midline defects in the hypothalamus with the floor of the hypothalamus is expanded
• telencephalic midline structures are abnormal (J:47920)
• cell death in roof plate of telencephalon is reduced compared to normal littermates at 9.5 dpc (J:135132)
• in 3 of 4 mice
• the olfactory bulbs are hypoplastic and lack glomerular and mitral cell layers
• in 25% of mice the septum pellucidum is missing

respiratory system
• mice display hypoplastic and frequently asymmetric olfactory pits
• severely affected mice (5%) lack or exhbit a reductin in telencephalic vesicles, olfactory placodes and frontonasal mass
• many mice display a disruption of left-right asymmetry of the telecephalic vessicle, eye, and olfactory placode
• at E12.5, in severely affected mice the olfactory placodes are absent
• the nasal cavitis are hypoplastic and the olfactory epithelium at the rostral extreme of the cavities is aplastic
• the vomeronasal organs are reduced
• the olfactory epithelium at the rostral extreme of the nasal cavities is aplastic
• however, caudal epithelium is normal

vision/eye
• at birth, severely affected mice display absent or micropthalamic eyes
• mildly affected mice display abnormal eye morphology in only one eye
• at E12.5, in severely affected mice the optic cup and ectodermal derivatives such as the optic lenses, olfactory placodes and Rathke's pouch are absent
• the optic vesicles are hypoplastic and frequently assymetric
• when eyes are present, they are located more posteriorly than in wild-type mice and remain buried in the orbit
• at birth, severely affected mice display absent or micropthalamic eyes
• at birth, severely affected mice display absent or micropthalamic eyes (J:47920)
• embryos lack eyes at 12.5 days post coitum (dpc) (J:142649)

craniofacial
• mildly affected mice display craniofacial dysplasia
• frontonasal mass development is impaired by 12.5 dpc
• mice display hypoplastic and frequently asymmetric olfactory pits
• severely affected mice (5%) lack or exhbit a reductin in telencephalic vesicles, olfactory placodes and frontonasal mass
• many mice display a disruption of left-right asymmetry of the telecephalic vessicle, eye, and olfactory placode
• at E12.5, in severely affected mice the olfactory placodes are absent
• the nasal cavitis are hypoplastic and the olfactory epithelium at the rostral extreme of the cavities is aplastic
• the vomeronasal organs are reduced
• the olfactory epithelium at the rostral extreme of the nasal cavities is aplastic
• however, caudal epithelium is normal
• at birth, severely affected mice display small head size, short nose and absent or micropthalamic eyes

hearing/vestibular/ear
• at E8.5, mice lack otic vesicles

taste/olfaction
• severely affected mice (5%) lack or exhbit a reductin in telencephalic vesicles, olfactory placodes and frontonasal mass
• many mice display a disruption of left-right asymmetry of the telecephalic vessicle, eye, and olfactory placode
• at E12.5, in severely affected mice the olfactory placodes are absent
• the olfactory epithelium at the rostral extreme of the nasal cavities is aplastic
• however, caudal epithelium is normal

endocrine/exocrine glands
• at E12.5, in severely affected mice Rathke's pouch is absent
• all mice display defects in Rathke's pouch such that it is abnormally bifurcated
• the anterior lobe of the pituitary is smaller than in wild-type mice and less intimately associated with the posterior lobe
• at E12.5, severely affected mice display no sign of infundibulum development

embryo
• at E11.5 and E12.5, in mildly affected mice the neuroepithelium is thin compared to in wild-type and heterozygous mice

growth/size/body
• the nasal cavitis are hypoplastic and the olfactory epithelium at the rostral extreme of the cavities is aplastic
• the vomeronasal organs are reduced
• the olfactory epithelium at the rostral extreme of the nasal cavities is aplastic
• however, caudal epithelium is normal
• at birth, severely affected mice display small head size, short nose and absent or micropthalamic eyes
• at birth, severely affected mice display small head size, short nose and absent or micropthalamic eyes


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