NDLI: A mouse translocation associated with Caspr5-2 disruption and perinatal lethality

Content Provider	Springer Nature Link
Author	Weichenhan, Dieter Traut, Walther Göngrich, Christina Himmelbauer, Heinz Busch, Lüder Monyer, Hannah Winking, Heinz
Copyright Year	2008
Abstract	We have previously described the paralogous mouse genes Caspr5-1, -2, and -3 of the neurexin gene family. Here we present the cytogenetic and molecular mapping of a null mutation of Caspr5-2 which was caused by reciprocal translocation between chromosomes 1 and 8 with breakpoints at bands 1E2.1 and 8B2.1, respectively. The translocation disrupts Caspr5-2 between exons 1 and 2 and causes stillbirth or early postnatal lethality of homozygous carriers. Because no other candidate genes were found, the disruption of Caspr5-2 is most likely the cause of lethality. Only rarely do homozygotes survive the critical stage, reach fertility, and are then apparently normal. They may be rescued by one of the two other Caspr5 paralogs. Caspr5-2 is expressed in spinal cord and brain tissues. Despite giving special attention to regions where in wild-type fetuses maximum expression was found, no malformation that might have caused death could be detected in fetal homozygous carriers of the translocation. We, therefore, suspect that Caspr5-2 disruption leads to dysfunction at the cellular level rather than at the level of organ development.
Starting Page	675
Ending Page	686
Page Count	12
File Format	PDF
ISSN	09388990
Journal	Mammalian Genome
Volume Number	19
Issue Number	10-12
e-ISSN	14321777
Language	English
Publisher	Springer-Verlag
Publisher Date	2008-10-24
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Zoology Anatomy Cell Biology
Content Type	Text
Resource Type	Article
Subject	Genetics

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