Phenotypes Associated with This Genotype

Genotype
MGI:3762131

• Allelic Composition: Madd^tm1Ytk/Madd^tm1Ytk
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA/2

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

mortality/aging

neonatal lethality, complete penetrance ( J:126869 )

• mice die within 30 minutes of birth due to acute respiratory failure

nervous system

abnormal synaptic vesicle morphology ( J:126869 )

• unlike in wild-type mice, synaptic vesicles are docked away from the presynaptic plasma membrane

• however, postsynaptic vesicles and development and maturation of the peripheral nervous system are normal

abnormal synaptic vesicle number ( J:126869 )

• at E18.5, few (11.8+/-3.63% of numbers vesicles in wild-type mice) to no synaptic vesicles are detected in the neuromuscular junctions of the phrenic nerve and diaphragm

abnormal neuromuscular synapse morphology ( J:126869 )

• at E18.5, few (11.8+/-3.63% of numbers vesicles in wild-type mice) to no synaptic vesicles are detected in the neuromuscular junctions of the phrenic nerve and diaphragm

• structural abnormalities at the neuromuscular junctions include enlargement of the axon terminal, degeneration of the mitochondria, and large synaptic vesicles with no content

• unlike in wild-type mice, synaptic vesicles are docked away from the presynaptic plasma membrane

• however, postsynaptic vesicles and development and maturation of the peripheral nervous system is normal are normal

impaired ability to fire action potentials ( J:126869 )

• at E18.5, mice show no response to mild (30 V) and moderate (50 V) stimuli and only low grade spikes are produced by maximal intensity (98 V) given at the spinal cord or sciatic nerve

• at E18.5, mice exhibit response to stimuli at the diaphragm to the phrenic nerve

• however, nerve conduction in the spinal cord and phrenic nerve is normal as is reaction levels of acetylcholine receptors

respiratory system

primary atelectasis ( J:126869 )

• pulmonary tract fails to dilate at birth

respiratory failure ( J:126869 )

• mice die within 30 minutes of birth due to acute respiratory failure

behavior/neurological

hyporesponsive to tactile stimuli ( J:126869 )

• at birth mice display few responses to tactile stimuli

cellular

abnormal synaptic vesicle morphology ( J:126869 )

• unlike in wild-type mice, synaptic vesicles are docked away from the presynaptic plasma membrane

• however, postsynaptic vesicles and development and maturation of the peripheral nervous system are normal

abnormal synaptic vesicle number ( J:126869 )

• at E18.5, few (11.8+/-3.63% of numbers vesicles in wild-type mice) to no synaptic vesicles are detected in the neuromuscular junctions of the phrenic nerve and diaphragm