Atm<sup>m1Kyo</sup> (ATM serine/threonine kinase; ENU induced mutant 1, Kyo) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: Atmm1Kyo (ATM serine/threonine kinase; ENU induced mutant 1, Kyo) Rattus norvegicus
Analyze
Symbol: Atmm1Kyo
Name: ATM serine/threonine kinase; ENU induced mutant 1, Kyo
RGD ID: 12879395
Description: This allele is an rat Atm missense mutant (amino acid change of leucine (L) to proline (P) at position 2262 (L2262P)) and was established by ENU mutagenesis using F344/NSlc strain.
ASSOCIATED WITH abnormal ovarian folliculogenesis; abnormal seminiferous tubule morphology; abnormal survival; ASSOCIATED WITH disease of cellular proliferation; infertility; lymphoma
Type: allele  of Atm  
Previously known as: Atmm1Kyo
Is Marker For: Strains:   F344-Atmm1Kyo  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position: No map positions available.


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. A rat model of ataxia-telangiectasia: evidence for a neurodegenerative phenotype. Quek H, etal., Hum Mol Genet. 2017 Jan 1;26(1):109-123. doi: 10.1093/hmg/ddw371.
2. Rats with a missense mutation in Atm display neuroinflammation and neurodegeneration subsequent to accumulation of cytosolic DNA following unrepaired DNA damage. Quek H, etal., J Leukoc Biol. 2017 Apr;101(4):927-947. doi: 10.1189/jlb.4VMA0716-316R. Epub 2016 Nov 28.

Genomics

Allelic Variants
Name Chromosome Start Pos End Pos Reference Nucleotide Variant Nucleotide Variant Type Assembly
Atmm1Kyo-var1 chr8 53854010 53854010 A G point_mutation mRatBN7.2
Atmm1Kyo-var1 chr8 58041203 58041203 A G point_mutation Rnor_6.0

Related Rat Strains
The following Strains have been annotated to Atmm1Kyo


Expression


Sequence

Nucleotide Sequences


Additional Information