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 (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• smaller litter sizes at birth (J:15331)
• smaller litter sizes at birth (J:15331)
• reduced litter sizes at weaning (J:15331)
• reduced litter sizes at weaning (J:15331)
• females tend to die during pregnancy and while nursing (J:15331)
• females tend to die during pregnancy and while nursing (J:15331)

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)
• 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 (J:15331)
• snout, ears, feet and tail particularly lighter than controls (J:15331)
• the characteristic yellowish mask around the eyes is diluted to near-white (J:15331)
• greatest at the base of hairs but affecting the whole hair (J:15331)
• snout, ears, feet and tail particularly lighter than controls (J:15331)
• the characteristic yellowish mask around the eyes is diluted to near-white (J:15331)
• white "mask" around eyes (J:15331)
• a long, narrow mid ventral white streak is occasionally observed (J:15331)
• white "mask" around eyes (J:15331)
• a long, narrow mid ventral white streak is occasionally observed (J:15331)
• at birth but normal in adults (J:15331)
• at birth but normal in adults (J:15331)
• immature melanosome forms (type II/III) accumulate to a certain degree but fully mature forms are also observed (J:80751)
• increase in membrane blebbing on type IV melanosomes, suggesting abnormal vesicular trafficking (J:80751)
• immature melanosome forms (type II/III) accumulate to a certain degree but fully mature forms are also observed (J:80751)
• increase in membrane blebbing on type IV melanosomes, suggesting abnormal vesicular trafficking (J:80751)

homeostasis/metabolism
• much reduced levels of serotonin in platelets and in each large dense granule (J:7327)
• much reduced levels of serotonin in platelets and in each large dense granule (J:7327)
• less secretion of dense granule contents and of lysozymal enzymes in comparison to controls (1/2 normal in response to thrombin) (J:7327)
• less secretion of dense granule contents and of lysozymal enzymes in comparison to controls (1/2 normal in response to thrombin) (J:7327)

reproductive system
• about 1 in 7 females is sterile (J:15331)
• about 1 in 7 females is sterile (J:15331)

vision/eye
• at birth but normal in adults (J:15331)
• at birth but normal in adults (J:15331)

hematopoietic system
• decreased numbers of dense granules/platelet (J:7327)
• platelet numbers are normal (J:7327)
• decreased numbers of dense granules/platelet (J:7327)
• platelet numbers are normal (J:7327)
• much reduced levels of serotonin in platelets and in each large dense granule (J:7327)
• much reduced levels of serotonin in platelets and in each large dense granule (J:7327)
• less secretion of dense granule contents and of lysozymal enzymes in comparison to controls (1/2 normal in response to thrombin) (J:7327)
• less secretion of dense granule contents and of lysozymal enzymes in comparison to controls (1/2 normal in response to thrombin) (J:7327)

behavior/neurological
• females that survive pregnancy and lactation make poor mothers (J:15331)
• females that survive pregnancy and lactation make poor mothers (J:15331)

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)
• 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 (J:15331)
• snout, ears, feet and tail particularly lighter than controls (J:15331)
• the characteristic yellowish mask around the eyes is diluted to near-white (J:15331)
• greatest at the base of hairs but affecting the whole hair (J:15331)
• snout, ears, feet and tail particularly lighter than controls (J:15331)
• the characteristic yellowish mask around the eyes is diluted to near-white (J:15331)
• white "mask" around eyes (J:15331)
• a long, narrow mid ventral white streak is occasionally observed (J:15331)
• white "mask" around eyes (J:15331)
• a long, narrow mid ventral white streak is occasionally observed (J:15331)


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
01/26/2016
MGI 6.02
The Jackson Laboratory