Phenotypes Associated with This Genotype

Genotype
MGI:5301973

• Allelic Composition: Lmnb1^tm1Yxz/Lmnb1^tm1Yxz; Lmnb2^tm1Yxz/Lmnb2^tm1Yxz
• Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:178993 )

• born alive but fail to breath and die immediately after birth

respiratory system

abnormal pulmonary alveolus morphology ( J:178993 )

• small alveoli

respiratory failure ( J:178993 )

muscle

thin diaphragm muscle ( J:178993 )

• extremely thin

growth/size/body

decreased embryo size ( J:178993 )

• appear smaller at E14 - E15

microcephaly ( J:178993 )

decreased fetal size ( J:178993 )

• at E18.5

nervous system

abnormal neuron differentiation ( J:178993 )

• in neuronal precursor cells nuclei fail to undergo interkinetic nuclear migration to the apical surface

abnormal neuronal migration ( J:178993 )

• neurons tend to stay in the ventricular or subventricular zones where they are born rather than migrating away

abnormal neuronal precursor proliferation ( J:178993 )

• cell plane cleavages are significantly more horizontal to the apical surface compared to control littermates

abnormal stratification in cerebral cortex ( J:178993 )

• cortical layers are disorganized

thin cerebral cortex ( J:178993 )

• at E18.5

abnormal phrenic nerve innervation pattern to diaphragm ( J:178993 )

• poorly innervated by the phrenic nerve

increased neuronal precursor cell number ( J:178993 )

• at E14.5 G2/M phase progenitor cells are present in more basal positions compared to controls

• increase in the number of progenitor cells at E18.5

cellular

abnormal cell physiology ( J:178993 )

• embryonic stem cells do not express any lamins but have normal nuclear envelopes and nuclear pores

abnormal neuron differentiation ( J:178993 )

• in neuronal precursor cells nuclei fail to undergo interkinetic nuclear migration to the apical surface

abnormal neuronal migration ( J:178993 )

• neurons tend to stay in the ventricular or subventricular zones where they are born rather than migrating away

abnormal neuronal precursor proliferation ( J:178993 )

• cell plane cleavages are significantly more horizontal to the apical surface compared to control littermates

embryo

decreased embryo size ( J:178993 )

• appear smaller at E14 - E15