Col6a3tm1Chu
Targeted Allele Detail
|
Symbol: |
Col6a3tm1Chu |
Name: |
collagen, type VI, alpha 3; targeted mutation 1, Mon-Li Chu |
MGI ID: |
MGI:5514357 |
Synonyms: |
Col6a3hm |
Gene: |
Col6a3 Location: Chr1:90694582-90771710 bp, - strand Genetic Position: Chr1, 45.53 cM
|
Alliance: |
Col6a3tm1Chu page
|
|
Variable fiber size with many small sized fibers and increase in interstitial connective tissue between muscles of Col6a3tm1Chu/Col6a3tm1Chu mice
Show the 3 phenotype image(s) involving this allele.
|
|
|
Germline Transmission: |
Earliest citation of germline transmission:
J:198581
|
Parent Cell Line: |
Not Specified (ES Cell)
|
Strain of Origin: |
129
|
|
Allele Type: |
|
Targeted (Hypomorph) |
Mutation: |
|
Insertion
|
|
|
Mutation details: A floxed neomycin resistance cassette replaced exon 15 to 16. RT-PCR confirmed low level expression of a truncated transcript that fused exon 14 to 17. This allele is hypomorphic.
(J:198581)
|
|
Generation of the Col6a3tm1Chu allele |
|
|
View phenotypes and curated references for all genotypes (concatenated display).
|
|
|
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 Col6a3 Mutation: |
168 strains or lines available
|
|
Original: |
J:198581 Pan TC, et al., COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy. J Biol Chem. 2013 May 17;288(20):14320-31 |
All: |
1 reference(s) |
|