Tc(HSA21)1TybEmcf
Allele Detail

Summary

• Symbol: Tc(HSA21)1TybEmcf
• Name: transchromosomal, human 21, line 1, Victor Tybulewicz and Elizabeth M C Fisher
• MGI ID: MGI:3814712
• Synonyms: Tc1, Tc(HSA21)91-1Emcf
• Gene: Tc(HSA21)1TybEmcf Location: unknown
• Alliance: Tc(HSA21)1TybEmcf page

Mutation origin

• Mutant Cell Line: 91-1
• Germline Transmission: Earliest citation of germline transmission: J:101383
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Not Applicable (Humanized sequence, Inserted expressed sequence)
• Mutation: Other
• Tc(HSA21)1TybEmcf expresses 22 genes
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  ABCG1 (9619)

  Abcg1

  (MGI:107704)

  human

  APP (351)

  App	(MGI:88059)

  human

  CBR1 (873)

  Cbr1	(MGI:88284)
  Cbr1b	(MGI:3646098)

  human

  COL6A1 (1291)

  Col6a1

  (MGI:88459)

  human

  CXADR (1525)

  Cxadr

  (MGI:1201679)

  human

  DYRK1A (1859)

  Dyrk1a

  (MGI:1330299)

  human

  ERG (2078)

  Erg	(MGI:95415)

  mouse

  Ets2 (MGI:95456)

  human

  HSPA13 (6782)

  Hspa13

  (MGI:1309463)

  human

  IFNAR1 (3454)

  Ifnar1

  (MGI:107658)

  human

  ITGB2 (3689)

  Itgb2	(MGI:96611)
  Itgb2l	(MGI:1277979)

  human

  KCNJ6 (3763)

  Kcnj6

  (MGI:104781)

  human

  MX1 (4599)

  Mx1	(MGI:97243)
  Mx2	(MGI:97244)

  human

  NCAM2 (4685)

  Ncam2

  (MGI:97282)

  human

  PCP4 (5121)

  Pcp4	(MGI:97509)

  human

  PFKL (5211)

  Pfkl	(MGI:97547)

  human

  PTTG1IP (754)

  Pttg1ip

  (MGI:2652132)

  human

  PWP2 (5822)

  Pwp2	(MGI:1341200)

  human

  RUNX1 (861)

  Runx1

  (MGI:99852)

  human

  SIM2 (6493)

  Sim2	(MGI:98307)

  human

  SLC37A1 (54020)

  Slc37a1

  (MGI:2446181)

  human

  SOD1 (6647)

  Sod1	(MGI:98351)

• Mutation details: A freely segregating chromosome composed of 42 Mb, or 90%, of human chromosome 21 (spanning D21S5-CXADR, D21S1922-IFNAR1 and RUNX1-COL6A1) was created in MPI-VI (129S2/SvPas) ES cells using irradiated microcell-mediated chromosome transfer. (J:101383)

Disease models

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 1 line available
• Carrying any Tc(HSA21)1TybEmcf Mutation: 4 strains or lines available

Notes

ES cell line = MPI-VI.

References

• Original: J:101383 O'Doherty A, et al., An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science. 2005 Sep 23;309(5743):2033-7
• All: 30 reference(s)