Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Hps4le
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:	Hps4le page

Strain of Origin:

C3H/HeJ

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

View phenotypes and curated references for all genotypes (concatenated display).

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

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

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)