Ret^tm2.1Cos
Targeted Allele Detail

Summary

• Symbol: Ret^tm2.1Cos
• Name: ret proto-oncogene; targeted mutation 2.1, Frank Costantini
• MGI ID: MGI:2136896
• Synonyms: RET^M919T, ret^MEN2B
• Gene: Ret Location: Chr6:118128706-118174679 bp, - strand Genetic Position: Chr6, 55.86 cM, cytoband E3-F1
• Alliance: Ret^tm2.1Cos page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:60659
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A T to C transition in codon 919, the equivalent codon to human 918, resulted in a protein which encoded threonine instead of methionine at this position. This mutation corresponds to mutations in human codon 918 commonly found in humans with multiple endocrine neoplasia type 2 (MEN2). Silent mutations in codons 920 and 921 abolished a MunI endonuclease site. An adjacent loxP flanked neomycin cassette was removed by crossing mice carrying Ret^tm2Cos to mice expressing Cre under the control of a Beta-actin promoter. (J:60659)

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

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 Ret Mutation: 54 strains or lines available

References

• Original: J:60659 Smith-Hicks CL, et al., C-cell hyperplasia, pheochromocytoma and sympathoadrenal malformation in a mouse model of multiple endocrine neoplasia type 2B. EMBO J. 2000 Feb 15;19(4):612-22
• All: 11 reference(s)