|
|
| Nomenclature |
|
Symbol:
|
Tg(Mt1-CBS*I278T)1Waku
|
|
Name:
|
transgene insertion 1, Warren Kruger
|
|
MGI ID: |
MGI:3851388 |
|
Synonyms: |
Tg-I278T |
|
Transgene:
|
Tg(Mt1-CBS*I278T)1Waku
Location:
unknown
|
|
Transgene origin |
|
Strain of Origin:
|
(C57BL/6 x C3H)F2
|
|
Transgene description |
|
Transgene
Type: | |
Transgenic (random, expressed) |
|
Mutation: | |
Insertion |
| |
|
Mutation details: The mouse promoter was used to drive zinc-inducible expression of the human cDNA with a point mutation that results in the amino acid substitution of threonine for isoleucine at position 278. This mutation was identified in patients with CBS deficiency. Three lines were created with no line numbers given. (J:105060)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
| 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 |
|
| References |
|
Original: |
J:105060
Wang L et al.,
"Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model."
Hum Mol Genet 2005 Aug 1;14(15):2201-8
|
|
All: |
6 reference(s)
|
|