Phenotypes Associated with This Genotype

Genotype
MGI:3760656

• Allelic Composition: Mycbp2^tm1.1Adia/Mycbp2^tm1.1Adia
• Genetic Background: involves: C57BL/6 * FVB/N

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

mortality/aging

neonatal lethality, complete penetrance ( J:125702 )

• mice die at birth without taking a breath

nervous system

abnormal nervous system morphology ( J:125702 )

• peripheral nerves are thin

abnormal axon guidance ( J:125702 )

• axons from the dorsal thalamus extend beyond their nuclei, avoiding the telencephalon and extending along the diencephalons-telecephalon boundary

• however, at E13.5 a well-formed domain of Islet1+ cells is present in the subcortical telencephalon indicating that the permissive corridor for migration into the telencephalon is present

• descending axons extend through the cerebral white matter and terminate abruptly at the border between the cortex and the striatum

abnormal brain morphology ( J:125702 )

• mice exhibit a general reduction in neurofilaments in the hippocampus, cerebral cortex, subcortical telencephalon and thalamus

abnormal brain interneuron morphology ( J:125702 )

• mice exhibit a reduction in staining for neurites of GABAnergic interneurons without a reduction in the number of GABAnergic cell bodies in the cerebral cortex

dilated lateral ventricle ( J:125702 )

• the volume of lateral ventricles is increased and extends into the olfactory bulb

decreased corpus callosum size ( J:125702 )

• the corpus callosum is reduced in size in the anterior-posterior and dorsal-ventral axes

absent anterior commissure ( J:125702 )

abnormal brain internal capsule morphology ( J:125702 )

• unlike in wild-type mice, corticofugal projections in the internal capsule contribute to the internal capsule

• mice lack the axonal tracts running through the internal capsule

abnormal midbrain morphology ( J:125702 )

• the interpeduncular fossa is exaggerated

abnormal diencephalon morphology ( J:125702 )

• the diencephalon is small and altered in organization

abnormal habenula morphology ( J:125702 )

• the habenulopeduncular tract is short

abnormal thalamus morphology ( J:125702 )

• the thalamus lacks innervation

abnormal lateral geniculate nucleus morphology ( J:125702 )

• the lateral geniculate nucleus lacks innervation

• however, axons leave the retina, form an optic nerve and reach and cross the optic chiasm

abnormal hippocampus morphology ( J:125702 )

• hippocampal formations are reduced in size and dysmorphic compared to in wild-type mice

loss of cortex neurons ( J:125702 )

• corticofugal and thalamocortical projections are lost

• by E18.5, corticofugal axons fail to exit the cerebral cortex and the thamamocortical axons fail to reach their targets in the cortex

abnormal innervation ( J:125702 )

• the thalamus lacks innervation

abnormal motor neuron morphology ( J:125702 )

• motor neurons terminate normally but also extend dysmorphic extrasynaptic variscosities filled with axonal and synaptic markers

abnormal neuromuscular synapse morphology ( J:125702 )

• the average motor unit size is increased relative to in wild-type mice with each motorneuron innervating more endplates than in wild-type mice

abnormal phrenic nerve morphology ( J:125702 )

• mice have narrow phrenic nerves with fewer axons than in wild-type mice

• the ventral most region of the diaphragm often lacks innervation

• although post-synaptic endplate numbers in the diaphragm are normal, endplates are more densely packed within a narrower endplate band

muscle

abnormal diaphragm morphology ( J:125702 )

• the ventral most region of the diaphragm often lacks innervation

• although post-synaptic endplate numbers in the diaphragm are normal, endplates are more densely packed within a narrower endplate band

cellular

abnormal axon guidance ( J:125702 )

• axons from the dorsal thalamus extend beyond their nuclei, avoiding the telencephalon and extending along the diencephalons-telecephalon boundary

• however, at E13.5 a well-formed domain of Islet1+ cells is present in the subcortical telencephalon indicating that the permissive corridor for migration into the telencephalon is present

• descending axons extend through the cerebral white matter and terminate abruptly at the border between the cortex and the striatum