Phenotypes associated with this allele

• Allele Symbol: Mycbp2^tm1Adia
• Allele Name: targeted mutation 1, Aaron DiAntonio
• Allele ID: MGI:3760639
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Mnx1^tm4(cre)Tmj/Mnx1^+ Mycbp2^tm1Adia/Mycbp2^tm1Adia	involves: 129S1/Sv * C57BL/6	MGI:3760658
cn2	Emx1^tm1(cre)Krj/Emx1^+ Mycbp2^tm1Adia/Mycbp2^tm1Adia	involves: 129S2/SvPas * C57BL/6	MGI:3760657

Genotype
MGI:3760658

cn1

• Allelic Composition: Mnx1^tm4(cre)Tmj/Mnx1⁺; Mycbp2^tm1Adia/Mycbp2^tm1Adia
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:125702 )

• some mice are stillborn while others survive into adulthood and are fertile

nervous system

abnormal neuromuscular synapse morphology ( J:125702 )

• mice exhibit neurofilament-rich sprouts that extend beyond normally innervated endplates

respiratory system

respiratory system phenotype ( J:125702 )

N • diaphragms exhibit full innervation unlike in Phr1^tm1.1Adia homozygotes

Genotype
MGI:3760657

cn2

• Allelic Composition: Emx1^tm1(cre)Krj/Emx1⁺; Mycbp2^tm1Adia/Mycbp2^tm1Adia
• Genetic Background: involves: 129S2/SvPas * C57BL/6

nervous system

abnormal axon guidance ( J:125702 )

• authors state that mice exhibit the same axonal guidance defects as observed in Phr1^tm1.1Adia homozygotes

• mice exhibit a track running through the internal capsule and retrogradely labeled cell bodies in the thalamus that is not observed in Phr1^tm1.1Adia homozygotes

• at E14.5 and E15.5, cortical axons fail to cross the corticostriatal boundary terminating in a bulb reminiscent of Probst bundle

• however, there is no delay in cortical axon outgrowth

enlarged lateral ventricles ( J:125702 )

• mice exhibit enlarged lateral ventricles

abnormal corpus callosum morphology ( J:125702 )

• collasal axons from the incipient visual cortex never cross into the corpus callosum as they do in wild-type mice, instead they extend anteriorly and medially to terminate in large bulbs known as Probst bundles

• descending corticofugal axons contribute to a thinner than normal corpus callosum

• however, corticofugal projections in the internal capsule do not contribute to the internal capsule

decreased corpus callosum size ( J:125702 )

• mice exhibit narrower corpus callosum comapred to in wild-type mice

abnormal hippocampus morphology ( J:125702 )

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

cellular

abnormal axon guidance ( J:125702 )

• authors state that mice exhibit the same axonal guidance defects as observed in Phr1^tm1.1Adia homozygotes

• mice exhibit a track running through the internal capsule and retrogradely labeled cell bodies in the thalamus that is not observed in Phr1^tm1.1Adia homozygotes

• at E14.5 and E15.5, cortical axons fail to cross the corticostriatal boundary terminating in a bulb reminiscent of Probst bundle

• however, there is no delay in cortical axon outgrowth