Col7a1^tm1Lbt
Targeted Allele Detail

Summary

• Symbol: Col7a1^tm1Lbt
• Name: collagen, type VII, alpha 1; targeted mutation 1, Leena Bruckner-Tuderman
• MGI ID: MGI:3796248
• Synonyms: Col7a1^flneo, TgH(COL7A1flNeo)288LBT
• Gene: Col7a1 Location: Chr9:108782654-108813943 bp, + strand Genetic Position: Chr9, 59.63 cM
• Alliance: Col7a1^tm1Lbt page

Col7a1^tm1Lbt/Col7a1^tm1Lbt mice develop blisters early after birth

Show the 6 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:136145
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Conditional ready, Hypomorph)
• Mutation: Insertion
• Mutation details: A loxP site was inserted upstream of exon 2 and an frt-flanked neo cassette with a 3' loxP site was inserted downstream of exon 2. Aberrant splicing creates a hypomorphic allele with reduced expression levels. (J:136145)

Disease models

Expression

In Structures Affected by this Mutation:

7 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 Col7a1 Mutation: 107 strains or lines available

References

• Original: J:136145 Fritsch A, et al., A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy. J Clin Invest. 2008 May;118(5):1669-79
• All: 10 reference(s)