Ap3b1^pe-9J
Spontaneous Allele Detail

Summary

• Symbol: Ap3b1^pe-9J
• Name: adaptor-related protein complex 3, beta 1 subunit; pearl 9 Jackson
• MGI ID: MGI:1857715
• Gene: Ap3b1 Location: Chr13:94495468-94702825 bp, + strand Genetic Position: Chr13, 49.22 cM
• Alliance: Ap3b1^pe-9J page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: RT-PCR analysis revealed an 867-bp in-frame deletion in the 5' part of the transcript. This deletion is predicted to result in a deletion of 289 amino acids, corresponding to approximately one third of the normal protein product. The encoded protein was not detected by Western blotting of protein extracts derived from kidney of mutant mice. (J:65643)
• Inheritance: Recessive

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 Ap3b1 Mutation: 96 strains or lines available

Notes

Arose spontaneously as a remutation on the C57BL/6J strain at The Jackson Laboratory (J:52521). Homozygotes have an external phenotype similar to the original mutant Ap3b1^pe (J:52521)

References

• Original: J:52521 Harris BS, The Jackson Laboratory Mouse Mutant Resource 1999 Mutation Reports. MGI Direct Data Submission. 1999
• All: 2 reference(s)