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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Arxtm1Kki
targeted mutation 1, Kunio Kitamura
MGI:2429693
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
ot1
Arxtm1Kki/Y involves: 129P2/OlaHsd * C57BL MGI:2451237


Genotype
MGI:2451237
ot1
Allelic
Composition
Arxtm1Kki/Y
Genetic
Background
involves: 129P2/OlaHsd * C57BL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arxtm1Kki mutation (5 available); any Arx mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• male hemizygotes are born at normal Mendelian ratios at E19.5 but die within 12 hrs after birth

nervous system
• at E13.5, hemizygotes exhibit a nearly normal migration of neuroepithelial cells in the cortical plate, except for some projection neurons
• at E14.5, hemizygotes display loss of direct migration of interneurons from the medial ganglionic eminence to the cortical intermediate zone
• in contrast, the migration of interneurons from the medial ganglionic eminence to the cortical subventricular zone via the lateral ganglionic eminence appears unchanged
• hemizygotes display abnormalities in neuronal proliferation, interneuronal migration and differentiation of the embryonic forebrain
• at E19.5, hemizygotes exhibit dysgenesis of the hippocampus
• at E19.5, only a small number of neurons of detected in the marginal zone
• in hemizygotes, glutaminergic neurons are abnormally distributed in layers II-V of the cortical plate instead of being located in layer V as in wild-type mice
• at E19.5, the cortical plate is thinner than normal
• at E12.5 and E14.5, the neocortical ventricular zone is thinner and contains fewer BrdU-positive cells than in wild-type mice
• hemizygotes have small brains
• at E19.5, the third ventricle is expanded due to partial dysgenesis of the thalamus
• at E18.5, thalamocortical axons to the internal capsule appear elongated via an ectopic pathway located in the vicinity of the amygdala
• at E12.5, hemizygotes display a deficiency in the thalamic eminence and part of the ventral thalamus
• as a result, the anterior medial thalamic nuclei and most of the central medial thalamic nuclei are lost at E19.5
• at E19.5, most of the central medial thalamic nuclei are lost
• at E19.5, hemizygotes display morphological abnormalities in the dorsal and ventral telencephalon
• at E19.5, hemizygotes display dysgenesis of the CA3 field
• at E19.5, hemizygotes display dysgenesis of the dentate gyrus
• at E19.5, the hippocampal fimbria are lost
• at E14.5, the embryonic neocortex is thinner than normal as a result of reduced proliferation of neuroepithelial cells in the entire neocortical ventricular zone
• the left and right olfactory bulbs are positioned with a wide interspace
• hemizygotes have small olfactory bulbs
• at E18.5, hemizygotes display many aberrant nerve fiber tracts, including the passage of thalamocortical axons through the amygdala
• at E19.5, the corpus callosum appears abnormal with a shortened anterioposterior axis
• at E19.5, the hippocampal commissure is lost
• in hemizygotes, glutaminergic neurons are abnormally distributed in layers II-V of the cortical plate instead of being located in layer V as in wild-type mice

endocrine/exocrine glands
• hemizygotes display hypoplasia of the seminal vesicles
• hemizygotes display seminiferous tubules of increased diameter relative to wild-type mice
• at E14.5, expression of the Leydig cell marker Hsd3b1 is severely reduced in the interstitial region of mutant testes, indicating a block in Leydig cell differentiation
• this effect is variable among individual mutant mice
• hemizygotes have small testes

reproductive system
• hemizygotes display hypoplasia of the seminal vesicles
• hemizygotes display seminiferous tubules of increased diameter relative to wild-type mice
• at E14.5, expression of the Leydig cell marker Hsd3b1 is severely reduced in the interstitial region of mutant testes, indicating a block in Leydig cell differentiation
• this effect is variable among individual mutant mice
• hemizygotes have small testes

cellular
• at E13.5, hemizygotes exhibit a nearly normal migration of neuroepithelial cells in the cortical plate, except for some projection neurons
• at E14.5, hemizygotes display loss of direct migration of interneurons from the medial ganglionic eminence to the cortical intermediate zone
• in contrast, the migration of interneurons from the medial ganglionic eminence to the cortical subventricular zone via the lateral ganglionic eminence appears unchanged

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
lissencephaly DOID:0050453 OMIM:PS607432
J:79871





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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
06/12/2024
MGI 6.13
The Jackson Laboratory