| Help | About | Contact Us

Allele : Rtel1<em2Khk> regulator of telomere elongation helicase 1; endonuclease-mediated mutation 2, Klaus H Kaestner

Primary Identifier	MGI:7574448	Allele Type	Endonuclease-mediated
Attribute String	Not Specified	Gene	Rtel1
Inheritance Mode	Not Specified	Strain of Origin	C57BL/6J
Is Recombinase	false	Is Wild Type	false

molecularNote

This is a point mutation in Rtel1 that changes codon 492 from methionine to isoleucine. This mutation corresponds to a mutation in RTEL1 in the human disease Hoyeraal-Hreidarsson syndrome (HHS).

mutations:
Single point mutation

synonyms:
Rtel1<M492I>,
Rtel1<M492I>

earliestPublication:
Kaestner K (2024) Separation of telomere protection from length regulation by different point mutations at methionine 492 of RTEL1 in a mouse model of Separation of telomere protection from length regulation by different point mutations at methionine 492 of Hoyeraal-Hreidarsson syndrome. Direct Data Submission

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

0 Carried By

0 Driven By

2 Publication categories

Questions? Comments? Click here!

MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Your name:
Your email address:
Subject:
Message:	---- Current page: ---- /mousemine/report.do?id=76842845

MouseMine