Phenotypes associated with this allele

• Allele Symbol: Snapin^tm1Zhs
• Allele Name: targeted mutation 1, Zu-Hang Sheng
• Allele ID: MGI:3608768
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Snapin^tm1Zhs/Snapin^tm1Zhs	involves: 129S6/SvEvTac	MGI:5586708
hm2	Snapin^tm1Zhs/Snapin^tm1Zhs	involves: 129S6/SvEvTac * C57BL/6	MGI:3616016

Genotype
MGI:5586708

hm1

• Allelic Composition: Snapin^tm1Zhs/Snapin^tm1Zhs
• Genetic Background: involves: 129S6/SvEvTac

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cellular

abnormal cell physiology ( J:207508 )

• mouse embryonic fibroblasts exhibit increased BACE1 retention within late endocytic organelles compared with wild-type cells

Genotype
MGI:3616016

hm2

• Allelic Composition: Snapin^tm1Zhs/Snapin^tm1Zhs
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

mortality/aging

neonatal lethality, complete penetrance ( J:102725 )

• homozygous animals die within several hours of birth

nervous system

nervous system phenotype ( J:102725 )

N • no obvious abnormalities in the structure and the cytoarchitecture of the brain and adrenal gland, or in the ultrastructure of the hippocampal synapses

N • no compensatory changes in the expression of proteins required for presynaptic function are seen

N • adrenal chromaffin cells used as a model for neuroexocytosis

endocrine/exocrine glands

abnormal adrenal gland secretion ( J:102725 )

• measurments of vesicle fusion and transmitter release in chromaffin cells indicate that a reduced level of vesicle fusion and catecholamine release occurs

• calcium ramp experiments indicate that the reduced level of secretion is due to a reduced number of secretory vesicles residing in releasable pools

• electron microscopic analysis demonstrates that the total number and distribution of vesicles is similar in mutant cells to controls indicating that the reduced secretion is due to a reduced pool of ready-release vesicles