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Col7a1tm1Lbt
Targeted Allele Detail
Summary
Symbol: Col7a1tm1Lbt
Name: collagen, type VII, alpha 1; targeted mutation 1, Leena Bruckner-Tuderman
MGI ID: MGI:3796248
Synonyms: Col7a1flneo, TgH(COL7A1flNeo)288LBT
Gene: Col7a1  Location: Chr9:108782654-108813943 bp, + strand  Genetic Position: Chr9, 59.63 cM
Alliance: Col7a1tm1Lbt page
Col7a1tm1Lbt/Col7a1tm1Lbt 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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:  109 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/01/2024
MGI 6.24
The Jackson Laboratory