Bloc1s6^pa
Spontaneous Allele Detail

Summary

• Symbol: Bloc1s6^pa
• Name: biogenesis of lysosomal organelles complex-1, subunit 6, pallidin; pallid
• MGI ID: MGI:1856982
• Synonyms: pa, Pldn^pa, Pldnpa
• Gene: Bloc1s6 Location: Chr2:122580423-122591395 bp, + strand Genetic Position: Chr2, 60.66 cM
• Alliance: Bloc1s6^pa page

Bloc1s6^pa/Bloc1s6^pa

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: wild

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: The C to T substitution at coding nucleotide 205 introduces a premature stop codon at arginine codon 69 (p.R69*) in pallid mice. Through Northern analysis, a single mRNA of about 2.5kb was found in reduced levels compared to wild-type. (J:2185, J:64907)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

11 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 6 strains available Cell Lines: 0 lines available
• Carrying any Bloc1s6 Mutation: 25 strains or lines available

References

• Original: J:13138 Roberts E, A new mutation in the house mouse (Mus musculus). Science. 1931;74:569
• All: 88 reference(s)