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Allele : Actn4<tm1.1Mrpk> actinin alpha 4; targeted mutation 1.1, Martin R Pollak

Primary Identifier  MGI:3767564 Allele Type  Targeted
Attribute String  Humanized sequence, Inserted expressed sequence Gene  Actn4
Transmission  Germline Strain of Origin  129X1/SvJ
Is Recombinase  false Is Wild Type  false
molecularNote  A Lys256Glu mutation, such as is associated with familial focal and segmental glomerulosclerosis (FSGS) was introduced into exon 8. In addition, a loxP flanked neomycin-resistance cassette was inserted 400 base pairs 3' of exon 8. The neomycin resistance cassette was removed by mating mice with Tg(Prm-cre)58Og, resulting in transcript expression that is similar to the expression in wild-type, as indicated by Northern blot. RT-PCR and sequencing of exon 8 confirmed that the transcript contains the point mutation, K228E.
  • mutations:
  • Insertion
  • synonyms:
  • Actn4<K228E>,
  • Actn4<K228E>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

7 Publication categories

Trail: Allele