Phenotypes Associated with This Genotype

Genotype
MGI:5285528

• Allelic Composition: Dnm1^tm1Pdc/Dnm1^tm1Pdc; 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

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 )