Hps4^le
Spontaneous Allele Detail

Summary

• Symbol: Hps4^le
• Name: HPS4, biogenesis of lysosomal organelles complex 3 subunit 2; light-ear
• MGI ID: MGI:1856931
• Synonyms: le, light-ear
• Gene: Hps4 Location: Chr5:112490949-112526280 bp, + strand Genetic Position: Chr5, 54.69 cM
• Alliance: Hps4^le page

Mutation origin

• Strain of Origin: C3H/HeJ

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Single point mutation
• Mutation details: The underlying mutation responsible for the phenotype in the light ear mouse was identified as a C-to-T substitution that resulted in a nonsense mutation at glutamine codon 50 (p.Q50*). The absence of protein in homozygous mutant animals was demonstrated through immunoblot analysis. (J:75144)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Hps4 Mutation: 42 strains or lines available

References

• Original: J:5032 Lane PW, et al., Pale ear and light ear in the house mouse. Mimic mutations in linkage groups XII and XVII. J Hered. 1967 Jan-Feb;58(1):17-20
• All: 25 reference(s)