Phenotypes associated with this allele

• Allele Symbol: Unc13a⁺
• Allele Name: wild type
• Allele ID: MGI:3051533
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Unc13a^tm1Bros/Unc13a^+	involves: 129	MGI:3718441
ht2	Unc13a^tm2Bros/Unc13a^+	Not Specified	MGI:3718440
cx3	Unc13a^tm2Bros/Unc13a^+ Unc13b^tm2Bros/Unc13b^tm2Bros	Not Specified	MGI:3718430

Genotype
MGI:3718441

ht1

• Allelic Composition: Unc13a^tm1Bros/Unc13a⁺
• Genetic Background: involves: 129

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

homeostasis/metabolism

decreased insulin secretion ( J:108689 , J:215257 )

• in response to a glucose load, mice produce 52% less insulin compared to wild-type mice and 43% compared to Unc13a^tm2Bros hetrozygotes (J:108689)

• when stimulated PMA (12-myristate 13-acetate ester), with glucose-stimulated insulin secretion is reduced by 49.2% relative to wild-type mice (J:108689)

• however, fasting insulin levels are normal (J:108689)

• islet beta cells show reduced insulin exocytosis by about 50% when induced by a train of ten 500 ms depolarization pulses and decreased monoacylglycerol stimulation of exocytosis (J:215257)

impaired glucose tolerance ( J:108689 )

• in an intraperitoneal glucose tolerance test, mice are glucose intolerant

• with males exhibiting significantly higher glucose levels in response to a glucose load

• however, fasting glucose levels are normal

endocrine/exocrine glands

abnormal pancreatic islet morphology ( J:108689 )

• mice exhibit a reduction in the size of ready releasable pools of vesicles in islet cells but respond to PMA (12-myristate 13-acetate ester) treatment by increasing RRPs

decreased insulin secretion ( J:108689 , J:215257 )

• in response to a glucose load, mice produce 52% less insulin compared to wild-type mice and 43% compared to Unc13a^tm2Bros hetrozygotes (J:108689)

• when stimulated PMA (12-myristate 13-acetate ester), with glucose-stimulated insulin secretion is reduced by 49.2% relative to wild-type mice (J:108689)

• however, fasting insulin levels are normal (J:108689)

• islet beta cells show reduced insulin exocytosis by about 50% when induced by a train of ten 500 ms depolarization pulses and decreased monoacylglycerol stimulation of exocytosis (J:215257)

Genotype
MGI:3718440

ht2

• Allelic Composition: Unc13a^tm2Bros/Unc13a⁺
• Genetic Background: Not Specified

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:108689 )

N • mice have normal glucose tolerance

endocrine/exocrine glands

abnormal pancreatic islet morphology ( J:108689 )

• mice exhibit a reduction in the size of ready releasable pools (RRPs) of vesicles in islet cells and do not respond to PMA (12-myristate 13-acetate ester) treatment

Genotype
MGI:3718430

cx3

• Allelic Composition: Unc13a^tm2Bros/Unc13a⁺; Unc13b^tm2Bros/Unc13b^tm2Bros
• Genetic Background: Not Specified

nervous system

abnormal synaptic vesicle morphology ( J:117827 )

• spontaneous release rates are intermediate and are increased by PDBu (4beta-phorbol-12,13-dibutyrate) treatment

abnormal synaptic vesicle number ( J:117827 )

• the number of fusion-competent vesicles is reduced to 2763+/-305 vesicles compared to 4109+/-722 vesicles in wild-type mice

abnormal excitatory postsynaptic currents ( J:117827 )

• at 10Hz action potential trains, excitatory postsynaptic current depression is enhanced relative to that in wild-type cells but not as much as in homozygotes and further enhanced by treatment with PDBu (4beta-phorbol-12,13-dibutyrate)

cellular

abnormal synaptic vesicle morphology ( J:117827 )

• spontaneous release rates are intermediate and are increased by PDBu (4beta-phorbol-12,13-dibutyrate) treatment

abnormal synaptic vesicle number ( J:117827 )

• the number of fusion-competent vesicles is reduced to 2763+/-305 vesicles compared to 4109+/-722 vesicles in wild-type mice