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Allele : Col13a1<tm1Pih> collagen, type XIII, alpha 1; targeted mutation 1, Taina Pihlajaniemi

Primary Identifier  MGI:2386983 Allele Type  Targeted
Attribute String  Null/knockout Gene  Col13a1
Transmission  Germline Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 1, which encodes 96 residues that make up the cytosolic and transmembrane domains as well as a portion of the ectodomain, was deleted by in vitro cre mediated recombination. An aberrant trasncript resulting from a cryptic splice site within intron 1 was detected by RT-PCR. Sequence analysis identified two start codons in intron 1 that are in frame with exon 2. Translation of the aberrant transcript is expected to produce a protein in which the 96 endogenous amino acids are replaced with either 65 or 11 residues encoded by intronic sequence. The novel amino terminal is expected to lack the transmembrane and signal peptide characteristics of the endogenous protein.
  • mutations:
  • Insertion,
  • Intragenic deletion
  • synonyms:
  • Col13a1<N>,
  • Col13a1<N>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

5 Publication categories