title: Paternal transmission of the mouse Thp mutation is lethal in some genetic backgrounds.
abstract: Thp is a large deletion on chromosome 17 which includes the maternal lethal gene Tme. Documentation of inheritance patterns suggests that Tme is an imprinted gene which is required for viability; maternal deletion is lethal while paternal deletion is viable. However, paternal transmission of Thp is rarely the expected 50%. We show here that paternally inherited Thp is lethal in some strains, providing evidence of an incompletely penetrant, dosage sensitive lethal allele of a locus that probably maps to the hairpin tail region of chr. 17. Interpretation of the various phenotypes associated with loss of the putative Tme gene, Igf2r, may need to be revised in view of these observations.
authors.affiliation: Department of Zoology, University of Toronto, Ontario, Canada.
authors.forename: I
authors.initials: I
authors.lastname: Rogers
authors.forename: K
authors.initials: K
authors.lastname: Okano
authors.forename: S
authors.initials: S
authors.lastname: Varmuza
mesh_terms: D000015:Abnormalities, Multiple / Q000196:embryology / Q000235:genetics*; D000818:Animals; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D003433:Crosses, Genetic; D004487:Edema / Q000196:embryology; D005314:Embryonic and Fetal Development / Q000235:genetics; D004843:Epistasis, Genetic; D005260:Female; D005313:Fetal Death / Q000196:embryology / Q000235:genetics / Q000473:pathology; D005804:Genes, Lethal; D018392:Genomic Imprinting; D005838:Genotype; D005865:Gestational Age; D008297:Male; D051379:Mice; D008809:Mice, Inbred C3H; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains / Q000235:genetics*; D009436:Neural Tube Defects / Q000196:embryology / Q000235:genetics; D010641:Phenotype; D017527:Receptor, IGF Type 2 / Q000235:genetics; D013623:Tail / Q000002:abnormalities / Q000196:embryology
chemical_list: D017527:Receptor, IGF Type 2