Phenotypes associated with this allele

• Allele Symbol: Dnm3^tm1.2Pdc
• Allele Name: targeted mutation 1.2, Pietro De Camilli
• Allele ID: MGI:5285526
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dnm3^tm1.2Pdc/Dnm3^tm1.2Pdc	involves: 129S1/Sv * C57BL/6 * FVB/N	MGI:5285527
cx2	Dnm1^tm1Pdc/Dnm1^tm1Pdc Dnm3^tm1.2Pdc/Dnm3^tm1.2Pdc	involves: 129S1/Sv * C57BL/6 * FVB/N	MGI:5285528

Genotype
MGI:5285527

hm1

• Allelic Composition: Dnm3^tm1.2Pdc/Dnm3^tm1.2Pdc
• Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/N

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

normal phenotype

no abnormal phenotype detected ( J:175247 )

• mice are grossly healthy, viable, and fertile

Genotype
MGI:5285528

cx2

• Allelic Composition: Dnm1^tm1Pdc/Dnm1^tm1Pdc; Dnm3^tm1.2Pdc/Dnm3^tm1.2Pdc
• Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/N

mortality/aging

neonatal lethality, complete penetrance ( J:175247 )

• mice die between hours of birth

nervous system

abnormal synaptic vesicle morphology ( J:175247 )

• synaptic vesicles are more heterogeneous in size than in wild-type mice

abnormal synaptic vesicle number ( J:175247 )

• fewer than in wild-type mice

• however, synaptic density is normal

abnormal synaptic vesicle recycling ( J:175247 )

• compensatory synaptic vesicle endocytosis is severally decreased compared to in wild-type neurons

decreased excitatory postsynaptic current amplitude ( J:175247 )

abnormal miniature excitatory postsynaptic currents ( J:175247 )

• amplitudes are more variable than in cultured wild-type neurons

• average charge transfer is slightly increased and frequency slightly decreased compared to in cultured wild-type neurons

behavior/neurological

absent gastric milk in neonates ( J:175247 )

hunched posture ( J:175247 )

abnormal voluntary movement ( J:175247 )

• at birth, mice exhibit limited movement compared with wild-type mice

homeostasis/metabolism

cyanosis ( J:175247 )