NDLI: X-inactivation analysis of embryonic lethality in Ocrl wt/−;Inpp5b −/− mice

Please wait, while we are loading the content...

Conserved regulatory motifs at phenylethanolamine N-methyltransferase (PNMT) are disrupted by common functional genetic variation: an integrated computational/experimental approach

JAX Colony Management System (JCMS): an extensible colony and phenotype data management system

Mammalian Genome : Volume 21, Issue 1-2, February 2010

Mammalian Genome : Volume 20

Mammalian Genome : Volume 19

Mammalian Genome : Volume 18

Mammalian Genome : Volume 17

Mammalian Genome : Volume 16

Mammalian Genome : Volume 15

Mammalian Genome : Volume 14

Mammalian Genome : Volume 13

Mammalian Genome : Volume 12

Mammalian Genome : Volume 11

Mammalian Genome : Volume 10

Mammalian Genome : Volume 9

Mammalian Genome : Volume 8

Mammalian Genome : Volume 7

X-inactivation analysis of embryonic lethality in Ocrl wt/−;Inpp5b −/− mice

Content Provider	Springer Nature Link
Author	Bernard, David J. Nussbaum, Robert L.
Copyright Year	2010
Abstract	Mutations in the human OCRL gene, which encodes a phosphatidylinositol(4,5)bisphosphate 5-phosphatase, result in the X-linked oculocerebrorenal syndrome of Lowe. Mice with a targeted disruption of Ocrl have no phenotypic abnormalities. Targeted disruption of its closest paralog, Inpp5b, causes male infertility in the 129S6 background. Mice with disruptions of both genes are lost in utero prior to 9.5-10.5 dpc, indicating that there is a functional overlap between the two paralogs early in development. We analyzed the pattern of X-inactivation in four tissues of distinct embryonic origin from Ocrl wt/−;Inpp5b −/− females to explore the timing and tissue distribution of the functional overlap. X-inactivation was strongly skewed against the disrupted Ocrl − allele being on the active X chromosome in all four tissues tested, indicating that there is early selection against cell lineages lacking both Ocrl and Inpp5b. Extraembryonic tissue was also involved in the lethality because there were never any live-born Ocrl wt/−;Inpp5b −/− females when the functional Ocrl wt allele was on the paternal X chromosome, which is preferentially inactivated in trophoblast-derived extraembryonic tissues. Live-born Ocrl wt/−;Inpp5b −/− females were found when the functional Ocrl wt allele was maternal, although in fewer numbers than expected. The importance of the extraembryonic tissues in the early embryonic lethality of embryos lacking both Ocrl and Inpp5b is reinforced by the successful isolation of a viable 40,XX Ocrl −/−;Inpp5b −/− embryonic stem cell from the inner cell mass of a 3.5-dpc blastocyst prior to implantation. These results indicate a functional overlap of Ocrl and Inpp5b in most cell lineages, especially in extraembryonic tissues.
Starting Page	186
Ending Page	194
Page Count	9
File Format	PDF
ISSN	09388990
Journal	Mammalian Genome
Volume Number	21
Issue Number	3-4
e-ISSN	14321777
Language	English
Publisher	Springer-Verlag
Publisher Date	2010-02-27
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

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

X-inactivation analysis of embryonic lethality in Ocrl wt/−;Inpp5b −/− mice

X-inactivation analysis of embryonic lethality in Ocrl wt/−;Inpp5b −/− mice

Expression of a modified H19 RNA does not cause embryonic lethality in mice

Early embryonic lethality in mice deficient in the p110β catalytic subunit of PI 3-kinase

Chromosomal domains and escape from X inactivation: comparative X inactivation analysis in mouse and human

Clustered transcripts that escape X inactivation at mouse XqD

Analysis of expression of parental alleles Xist and Gla in interspecific embryonic hybrid cells during induced in vitro inactivation of X-chromosomes

Loss of LKLF Function Results in Embryonic Lethality in Mice

Y-chromosomal factor is involved in neonatal lethality in (♀ DDD × ♂DH-Dh/+) F1-Dh/+ male mice

X-inactivation analysis of embryonic lethality in Ocrl wt/−;Inpp5b −/− mice

Similar Documents

X-inactivation analysis of embryonic lethality in Ocrl wt/−;Inpp5b −/− mice

X-inactivation analysis of embryonic lethality in Ocrl wt/−;Inpp5b −/− mice

Expression of a modified H19 RNA does not cause embryonic lethality in mice

Early embryonic lethality in mice deficient in the p110β catalytic subunit of PI 3-kinase

Chromosomal domains and escape from X inactivation: comparative X inactivation analysis in mouse and human

Clustered transcripts that escape X inactivation at mouse XqD

Analysis of expression of parental alleles Xist and Gla in interspecific embryonic hybrid cells during induced in vitro inactivation of X-chromosomes

Loss of LKLF Function Results in Embryonic Lethality in Mice

Y-chromosomal factor is involved in neonatal lethality in (♀ DDD × ♂DH-Dh/+) F1-Dh/+ male mice

X-inactivation analysis of embryonic lethality in Ocrl wt/−;Inpp5b −/− mice