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Allele : Smtn<tm1Gve> smoothelin; targeted mutation 1, Guillaume van Eys

Primary Identifier  MGI:3613292 Allele Type  Targeted
Attribute String  Null/knockout Gene  Smtn
Transmission  Germline Strain of Origin  129/Sv
Is Recombinase  false Is Wild Type  false
description  ES cell line = L129/Sv

Phenotypic Similarity to Human Syndrome: chronic intestinal pseudo-obstruction (J:104648)

molecularNote  Part of exon 18 and exons 19-20 were replaced with a neomycin resistance gene under the control of a thymidine kinase promoter in reverse orientation. RT-PCR detected a shorter transcript in mutants with exons 16 or 17 spliced to exon 21. Immunohistochemical stainings failed to detect protein in jejunum.
  • mutations:
  • Intragenic deletion,
  • Insertion
  • synonyms:
  • Smtn-A/B<->,
  • Smtn-A/B<->
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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

5 Publication categories