Analysis Tools|
Allele Symbol Allele Name Allele ID |
Hesx1tm1Icar targeted mutation 1, Iain C A F Robinson MGI:1931124 |
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| Summary |
13 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• bilateral in some mice
• unilateral in some mice
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• unilateral in some mice
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• in some mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most severely affected pups only die shortly after birth
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• 75% of mice dead by 3 weeks
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• the vomeronasal organs are reduced
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• at E11.5 and E12.5, in mildly affected mice the neuroepithelium is thin compared to in wild-type and heterozygous mice
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• at E12.5, in severely affected mice Rathke's pouch is absent
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• all mice display defects in Rathke's pouch such that it is abnormally bifurcated
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• the anterior lobe of the pituitary is smaller than in wild-type mice and less intimately associated with the posterior lobe
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• at E12.5, severely affected mice display no sign of infundibulum development
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• 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
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• many mice display a disruption of left-right asymmetry of the telecephalic vessicle, eye, and olfactory placode
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• 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)
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• at 9.5 dpc (days post coitum), elevated apoptosis is observed relative to wild-type at level of midbrain-hindbrain boundary
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• 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)
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• the dorsal and ventral hippocampal commissures are absent in 2 of 3 mice that also lacked the anterior commissure and the corpus callosum
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• absent in 3 of 4 mice
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• all mice display ventral midline defects in the hypothalamus with the floor of the hypothalamus is expanded
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• 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)
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• in 3 of 4 mice
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• the olfactory bulbs are hypoplastic and lack glomerular and mitral cell layers
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• in 25% of mice the septum pellucidum is missing
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• mice display hypoplastic and frequently asymmetric olfactory pits
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• 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
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• the nasal cavitis are hypoplastic and the olfactory epithelium at the rostral extreme of the cavities is aplastic
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• the vomeronasal organs are reduced
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• the olfactory epithelium at the rostral extreme of the nasal cavities is aplastic
• however, caudal epithelium is normal
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• at birth, severely affected mice display absent or micropthalamic eyes
• mildly affected mice display abnormal eye morphology in only one eye
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• 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
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• the optic vesicles are hypoplastic and frequently assymetric
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• when eyes are present, they are located more posteriorly than in wild-type mice and remain buried in the orbit
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• at birth, severely affected mice display absent or micropthalamic eyes
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• at birth, severely affected mice display absent or micropthalamic eyes
(J:47920)
• embryos lack eyes at 12.5 days post coitum (dpc)
(J:142649)
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• mildly affected mice display craniofacial dysplasia
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• frontonasal mass development is impaired by 12.5 dpc
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• mice display hypoplastic and frequently asymmetric olfactory pits
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• 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
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• the nasal cavitis are hypoplastic and the olfactory epithelium at the rostral extreme of the cavities is aplastic
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• the vomeronasal organs are reduced
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• the olfactory epithelium at the rostral extreme of the nasal cavities is aplastic
• however, caudal epithelium is normal
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• at birth, severely affected mice display small head size, short nose and absent or micropthalamic eyes
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• at E8.5, mice lack otic vesicles
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• 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
|
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• 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 E11.5 and E12.5, in mildly affected mice the neuroepithelium is thin compared to in wild-type and heterozygous mice
|
|
• 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
|
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• at birth, severely affected mice display small head size, short nose and absent or micropthalamic eyes
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• at birth, severely affected mice display small head size, short nose and absent or micropthalamic eyes
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| hypopituitarism | DOID:9406 |
OMIM:221750 OMIM:262600 OMIM:262700 OMIM:613038 OMIM:613986 |
J:47920 | |
| septooptic dysplasia | DOID:0060857 |
OMIM:182230 |
J:47920 , J:60068 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 1% of mice exhibit the mild phenotype associated with homozygous mice
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• 1% of mice exhibit the mild phenotype associated with homozygous mice
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• 1% of mice exhibit the mild phenotype associated with homozygous mice
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• 1% of mice exhibit the mild phenotype associated with homozygous mice
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• 1% of mice exhibit the mild phenotype associated with homozygous mice
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• 1% of mice exhibit the mild phenotype associated with homozygous mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• partial penetrance and displayed a variable range of anterior defects
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• bilateral in some mice
• unilateral in some mice
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• unilateral in some mice
• bilateral in some mice
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• in some mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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• 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
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• 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
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• in some mice
|
|
• bilateral in some mice
• unilateral in some mice
|
|
• unilateral in some mice
|
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|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• telencepepahlic vesicle development is often asymmetric in embryos, with the right side being more severely affected
• very small telencephalic vesicle is sometimes observed at the 8-10 somite stage
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• development of optic vesicles is often asymmetric with right side more severely affected
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|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• unilateral in some mice
• bilateral in some mice
|
|
• unilateral in some mice
|
|
• in some mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• unilateral in some mice
• bilateral in some mice
|
|
• unilateral in some mice
|
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• in some mice
|
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• almost complete loss of most of the anterior forebrain
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|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• in some mice
|
|
• bilateral in some mice
• unilateral in some mice
|
|
• unilateral in some mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• in some mice
|
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• bilateral in some mice
• unilateral in some mice
|
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• unilateral in some mice
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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 11/12/2024 MGI 6.24 |
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