Deaf1^tm1.2Mico
Targeted Allele Detail

Summary

• Symbol: Deaf1^tm1.2Mico
• Name: DEAF1, transcription factor; targeted mutation 1.2, Michael Collard
• MGI ID: MGI:5576139
• Gene: Deaf1 Location: Chr7:140877093-140907603 bp, - strand Genetic Position: Chr7, 86.61 cM
• Alliance: Deaf1^tm1.2Mico page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:211699
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A loxP site was inserted in intron 1 and a floxed neo resistance cassette was inserted in intron 5. Cre excision of the resistance cassette left exons 2, 3, 4, and 5 flanked by loxP sites. Further cre expression in germline cells deleted the floxed exons. (J:211699)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Deaf1 Mutation: 27 strains or lines available

References

• Original: J:211699 Vulto-van Silfhout AT, et al., Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. Am J Hum Genet. 2014 May 1;94(5):649-61
• All: 2 reference(s)