Hip1^tm3Tsr
Targeted Allele Detail

Summary

• Symbol: Hip1^tm3Tsr
• Name: huntingtin interacting protein 1; targeted mutation 3, Theodora S Ross
• MGI ID: MGI:3044458
• Synonyms: Hip1^null
• Gene: Hip1 Location: Chr5:135435385-135573974 bp, - strand Genetic Position: Chr5, 75.18 cM, cytoband F-G2
• Alliance: Hip1^tm3Tsr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:90400
• Parent Cell Line: RW1 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Aberrant recombination of a targeting vector containing a human HP1/PDGFRB cDNA resulted in an allele from which neither mouse nor human transcript or protein were produced. Sequence analysis revealed a 498 bp deletion, which predicts a frameshift mutation in the protein product as murine exon 1 is fused to the human HP1/PDGFRB cDNA out of frame. (J:90400)

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Hip1 Mutation: 67 strains or lines available

References

• Original: J:90400 Oravecz-Wilson KI, et al., Huntingtin Interacting Protein 1 mutations lead to abnormal hematopoiesis, spinal defects and cataracts. Hum Mol Genet. 2004 Apr 15;13(8):851-67
• All: 5 reference(s)