About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:2655702
Allelic
Composition
Ap3b1pe/Ap3b1pe
Genetic
Background
involves: C3H/He
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ap3b1pe mutation (4 available); any Ap3b1 mutation (96 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• females tend to die during pregnancy and while nursing
• smaller litter sizes at birth
• reduced litter sizes at weaning

pigmentation
• about 6% of homozygotes have normal color patches (J:6739)
• if more than 5% of coat is normally pigmented then germinal reversion is also seen (J:6739)
• greatest at the base of hairs but affecting the whole hair
• snout, ears, feet and tail particularly lighter than controls
• the characteristic yellowish mask around the eyes is diluted to near-white
• white "mask" around eyes
• a long, narrow mid ventral white streak is occasionally observed
• at birth but normal in adults
• immature melanosome forms (type II/III) accumulate to a certain degree but fully mature forms are also observed
• increase in membrane blebbing on type IV melanosomes, suggesting abnormal vesicular trafficking

homeostasis/metabolism
• much reduced levels of serotonin in platelets and in each large dense granule
• less secretion of dense granule contents and of lysozymal enzymes in comparison to controls (1/2 normal in response to thrombin)

reproductive system
• about 1 in 7 females is sterile

vision/eye
• at birth but normal in adults

hematopoietic system
• decreased numbers of dense granules/platelet
• platelet numbers are normal
• much reduced levels of serotonin in platelets and in each large dense granule
• less secretion of dense granule contents and of lysozymal enzymes in comparison to controls (1/2 normal in response to thrombin)

behavior/neurological
• females that survive pregnancy and lactation make poor mothers

integument
• about 6% of homozygotes have normal color patches (J:6739)
• if more than 5% of coat is normally pigmented then germinal reversion is also seen (J:6739)
• greatest at the base of hairs but affecting the whole hair
• snout, ears, feet and tail particularly lighter than controls
• the characteristic yellowish mask around the eyes is diluted to near-white
• a long, narrow mid ventral white streak is occasionally observed
• white "mask" around eyes


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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/05/2024
MGI 6.24
The Jackson Laboratory