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Allele : Col17a1<tm1Tiin> collagen, type XVII, alpha 1; targeted mutation 1, Tiina Hurskainen

Primary Identifier  MGI:5621004 Allele Type  Targeted
Attribute String  Null/knockout Gene  Col17a1
Transmission  Germline Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
description  Phenotypic Similarity to Human Syndrome: Bullous Pemphigoid J:220622.
molecularNote  Exon 18 and surrounding intronic sequences were replaced with a neomycin resistance cassette. In addition to the deletion, a 498 bp insert was detected in the transcript. The insertion results in a stop codon after the open reading frame of 89 bp. Western blot analysis confirmed the absence of protein expression in keratinocytes.
  • mutations:
  • Insertion,
  • Intragenic deletion
  • synonyms:
  • deltaNC14A,
  • deltaNC14A
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

7 Publication categories