Cntn1^m1J
Spontaneous Allele Detail

Summary

• Symbol: Cntn1^m1J
• Name: contactin 1; mutation 1, Jackson
• MGI ID: MGI:5050725
• Synonyms: J
• Gene: Cntn1 Location: Chr15:91949034-92239834 bp, + strand Genetic Position: Chr15, 46.39 cM, cytoband F
• Alliance: Cntn1^m1J page

Mutation origin

• Strain of Origin: BALB/cJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A spontaneous G-to-A point mutation at 92,250,964 of Chr15 (GRCm38) changes tryptophan codon 364 into a premature stop codon at position 364 (p.W364*). Western blot of brain or spinal cord extracts from homozygotes failed to identify this protein and efforts to amplify segments of this gene from cDNA failed. (J:178817, J:222308)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Cntn1 Mutation: 58 strains or lines available

References

• Original: J:178817 Davisson MT, et al., A spontaneous mutation in contactin 1 in the mouse. PLoS One. 2011;6(12):e29538
• All: 3 reference(s)