Rtel1^em2Khk
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rtel1^em2Khk
• Name: regulator of telomere elongation helicase 1; endonuclease-mediated mutation 2, Klaus H Kaestner
• MGI ID: MGI:7574448
• Synonyms: Rtel1^M492I
• Gene: Rtel1 Location: Chr2:180961532-180998409 bp, + strand Genetic Position: Chr2, 103.63 cM
• Alliance: Rtel1^em2Khk page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: 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). (J:344245)
• Inheritance: Not Specified

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Rtel1 Mutation: 75 strains or lines available

References

• Original: J:344245 Kaestner K, 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. 2024
• All: 1 reference(s)