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Allele : Bbs7<tm1Vcs> Bardet-Biedl syndrome 7; targeted mutation 1, Val C Sheffield

Primary Identifier  MGI:5315475 Allele Type  Targeted
Attribute String  Null/knockout Gene  Bbs7
Transmission  Germline Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Is Recombinase  false Is Wild Type  false
description  Phenotypic Similarity to Human Syndrome: Bardet-Biedl Syndrome in mice homozygous for Bbs7tm1Vcs (J:226740)
molecularNote  Exon 5 was replaced with a neomycin cassette. This causes a frameshift resulting in a null allele. The absence of expressed transcript was verified by RT-PCR analysis using RNA isolated from homozygous mutant mouse testes with primers within exon 5. The absence of the encoded protein was confirmed by western blotting of homogenates of homozygous mutant mouse testes.
  • mutations:
  • Insertion,
  • Intragenic deletion
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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