B6.C3-Pde6b<rd1> Hps4<le>/J Strain Detail MGI Mouse MGI:2161659

B6.C3-Pde6b^rd1 Hps4^le/J Strain Detail

Summary

2 associated mutations

Mutation Carried	Marker
Hps4^le	Hps4
Pde6b^rd1	Pde6b

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles in this strain.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	normal phenotype	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

Human Diseases

	model 1
Hermansky-Pudlak syndrome 4	√

Key

√

disease model

expected model not found

1 associated strain record at IMSR

IMSR	Repository	IMSR Strain	Why Matched
JAX:000002	JAX	B6.C3-Pde6b^rd1 Hps4^le/J	exact match to ID

Earliest

J:75144 Suzuki T, et al., Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet. 2002 Mar;30(3):321-4
All

3

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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