Mouse Genome Informatics
ot
    Arxtm1Kki/Y
involves: 129P2/OlaHsd * C57BL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• male hemizygotes are born at normal Mendelian ratios at E19.5 but die within 12 hrs after birth (J:79871)

nervous system
• at E13.5, hemizygotes exhibit a nearly normal migration of neuroepithelial cells in the cortical plate, except for some projection neurons (J:79871)
• at E14.5, hemizygotes display loss of direct migration of interneurons from the medial ganglionic eminence to the cortical intermediate zone (J:79871)
• in contrast, the migration of interneurons from the medial ganglionic eminence to the cortical subventricular zone via the lateral ganglionic eminence appears unchanged (J:79871)
• hemizygotes display abnormalities in neuronal proliferation, interneuronal migration and differentiation of the embryonic forebrain (J:79871)
• at E19.5, hemizygotes exhibit dysgenesis of the hippocampus (J:79871)
• at E19.5, only a small number of neurons of detected in the marginal zone (J:79871)
• 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 (J:79871)
• at E19.5, the cortical plate is thinner than normal (J:79871)
• at E12.5 and E14.5, the neocortical ventricular zone is thinner and contains fewer BrdU-positive cells than in wild-type mice (J:79871)
• hemizygotes have small brains (J:79871)
• at E19.5, the third ventricle is expanded due to partial dysgenesis of the thalamus (J:79871)
• at E18.5, thalamocortical axons to the internal capsule appear elongated via an ectopic pathway located in the vicinity of the amygdala (J:79871)
• at E12.5, hemizygotes display a deficiency in the thalamic eminence and part of the ventral thalamus (J:79871)
• as a result, the anterior medial thalamic nuclei and most of the central medial thalamic nuclei are lost at E19.5 (J:79871)
• at E19.5, most of the central medial thalamic nuclei are lost (J:79871)
• at E19.5, hemizygotes display morphological abnormalities in the dorsal and ventral telencephalon (J:79871)
• at E19.5, hemizygotes display dysgenesis of the CA3 field (J:79871)
• at E19.5, hemizygotes display dysgenesis of the dentate gyrus (J:79871)
• at E19.5, the hippocampal fimbria are lost (J:79871)
• 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 (J:79871)
• the left and right olfactory bulbs are positioned with a wide interspace (J:79871)
• hemizygotes have small olfactory bulbs (J:79871)
• at E18.5, hemizygotes display many aberrant nerve fiber tracts, including the passage of thalamocortical axons through the amygdala (J:79871)
• at E19.5, the corpus callosum appears abnormal with a shortened anterioposterior axis (J:79871)
• at E19.5, the hippocampal commissure is lost (J:79871)
• 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 (J:79871)

endocrine/exocrine glands
• hemizygotes display hypoplasia of the seminal vesicles (J:79871)
• 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 (J:79871)
• this effect is variable among individual mutant mice (J:79871)
• hemizygotes display seminiferous tubules of increased diameter relative to wild-type mice (J:79871)
• hemizygotes have small testes (J:79871)

reproductive system
• hemizygotes display hypoplasia of the seminal vesicles (J:79871)
• 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 (J:79871)
• this effect is variable among individual mutant mice (J:79871)
• hemizygotes display seminiferous tubules of increased diameter relative to wild-type mice (J:79871)
• hemizygotes have small testes (J:79871)

cellular
• at E13.5, hemizygotes exhibit a nearly normal migration of neuroepithelial cells in the cortical plate, except for some projection neurons (J:79871)
• at E14.5, hemizygotes display loss of direct migration of interneurons from the medial ganglionic eminence to the cortical intermediate zone (J:79871)
• in contrast, the migration of interneurons from the medial ganglionic eminence to the cortical subventricular zone via the lateral ganglionic eminence appears unchanged (J:79871)

Mouse Models of Human Disease
OMIM IDRef(s)
Lissencephaly, X-Linked, 2; LISX2 300215 J:79871