Col17a1^tm1Shzu
Targeted Allele Detail

Summary

• Symbol: Col17a1^tm1Shzu
• Name: collagen, type XVII, alpha 1; targeted mutation 1, Hiroshi Shimizu
• MGI ID: MGI:3711776
• Synonyms: Col17^m-
• Gene: Col17a1 Location: Chr19:47634783-47680460 bp, - strand Genetic Position: Chr19, 40.07 cM
• Alliance: Col17a1^tm1Shzu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:121695
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/SvEv

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 2 was replaced with a PGK-neo cassette by homologous recombination. Northern blot confirmed absence of transcript in mutant karatinocytes, and Western blot confirmed absence of protein. (J:121695)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Col17a1^tm1Shzu/Col17a1^tm1Shzu	B6.129S-Col17a1^tm1Shzu
cx2	Col17a1^tm1Shzu/Col17a1^tm1Shzu Tg(KRT14-COL17A1)1Shzu/0	involves: 129S/SvEv * C57BL/6J * C57BL/6Ncr

Phenotypes:

Affected Systems	hm1	cx2
show or hide all annotated terms
growth/size/body	√
postnatal growth retardation	√
immune system		√
decreased autoantibody level		√
integument	√	√
integument phenotype		N
sparse hair	√
abnormal epidermal layer morphology	√
dermal-epidermal separation		√
blistering	√	√
reddish skin		√
skin lesions		√
abnormal skin condition	√
mortality/aging	√
postnatal lethality, incomplete penetrance	√
reproductive system	√	√
abnormal reproductive system physiology		√
abnormal fertility/fecundity	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

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disease model

expected model not found

Models:

Human Diseases	hm1
junctional epidermolysis bullosa non-Herlitz type IDs junctional epidermolysis bullosa non-Herlitz type       DOID:0060738 ICD10CM:Q81.8 OMIM:226650 ORDO:79402 ORDO:89840 Close	√

Expression

In Structures Affected by this Mutation:

3 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 Col17a1 Mutation: 51 strains or lines available

References

• Original: J:121695 Nishie W, et al., Humanization of autoantigen. Nat Med. 2007 Mar;13(3):378-83
• All: 11 reference(s)