Gamt^tm1Isb
Targeted Allele Detail

Summary

• Symbol: Gamt^tm1Isb
• Name: guanidinoacetate methyltransferase; targeted mutation 1, Dirk Isbrandt
• MGI ID: MGI:3044282
• Synonyms: mGAMT^-
• Gene: Gamt Location: Chr10:80093985-80096846 bp, - strand Genetic Position: Chr10, 39.72 cM
• Alliance: Gamt^tm1Isb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:90367
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A neo was inserted into exon 1, creating a frame shift and introducing a premature stop codon. Western blot indicated absence of protein in mutant livers. (J:90367)

Disease models

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Gamt Mutation: 11 strains or lines available

References

• Original: J:90367 Schmidt A, et al., Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency. Hum Mol Genet. 2004 May 1;13(9):905-21
• All: 14 reference(s)