Phenotypes associated with this allele

• Allele Symbol: Lig3^tm1.1Pmc
• Allele Name: targeted mutation 1.1, Peter J McKinnon
• Allele ID: MGI:4946931
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Lig3^tm1.1Pmc/Lig3^tm1.1Pmc Tg(Ckmm-cre)5Khn/0	involves: C57BL/6 * FVB	MGI:4946937
cn2	Lig3^tm1.1Pmc/Lig3^tm1.1Pmc Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:4946935

Genotype
MGI:4946937

cn1

• Allelic Composition: Lig3^tm1.1Pmc/Lig3^tm1.1Pmc; Tg(Ckmm-cre)5Khn/0
• Genetic Background: involves: C57BL/6 * FVB

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

mortality/aging

premature death ( J:170077 )

• mice die between 3.5 and 4.5 weeks of age

cardiovascular system

abnormal myocardial fiber morphology ( J:170077 )

• with abnormal mitochondria

dilated heart atrium ( J:170077 )

enlarged heart ( J:170077 )

thin ventricular wall ( J:170077 )

dilated heart ventricle ( J:170077 )

abnormal cardiovascular system physiology ( J:170077 )

• mice exhibit decreased diastolic and systolic movements of the left ventricle wall and interventricular septum compared with wild-type mice

decreased cardiac muscle contractility ( J:170077 )

• fractional shortening and ejection fraction are decreased compared to in wild-type mice

muscle

abnormal myocardial fiber morphology ( J:170077 )

• with abnormal mitochondria

decreased cardiac muscle contractility ( J:170077 )

• fractional shortening and ejection fraction are decreased compared to in wild-type mice

growth/size/body

enlarged heart ( J:170077 )

Genotype
MGI:4946935

cn2

• Allelic Composition: Lig3^tm1.1Pmc/Lig3^tm1.1Pmc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:170077 )

• mice do not survive beyond 20 days of age

nervous system

abnormal neuron differentiation ( J:170077 )

• granule neuron progenitors exhibit reduced proliferation and increased apoptosis compared to in wild-type mice

abnormal neuronal precursor proliferation ( J:170077 )

• reduced in the cerebellum

abnormal cerebellum development ( J:170077 )

decreased brain size ( J:170077 )

decreased cerebellar granule cell number ( J:170077 )

small cerebellum ( J:170077 )

abnormal astrocyte morphology ( J:170077 )

• cortical astrocytes exhibit mitochondrial defects, decreased mitochondrial DNA, and increased lactic acid compared to in wild-type mice

decreased oligodendrocyte number ( J:170077 )

abnormal astrocyte physiology ( J:170077 )

• DNA repair in response to ultraviolet irradiation or methylmethanesulphonate compared with wild-type astrocyte

• however, astrocytes exhibit normal DNA repair in response to ionizing radiation and hydrogen peroxide

cellular

abnormal neuron differentiation ( J:170077 )

• granule neuron progenitors exhibit reduced proliferation and increased apoptosis compared to in wild-type mice

abnormal neuronal precursor proliferation ( J:170077 )

• reduced in the cerebellum

abnormal cellular respiration ( J:170077 )

• brain cells exhibit defective mitochondria complex I activity and reduced oxidative metabolism compared with wild-type cells

abnormal DNA repair ( J:170077 )

• DNA repair in response to ultraviolet irradiation or methylmethanesulphonate compared with wild-type astrocyte

• however, astrocytes exhibit normal DNA repair in response to ionizing radiation and hydrogen peroxide

growth/size/body

microcephaly ( J:170077 )

postnatal growth retardation ( J:170077 )

• at 2 weeks of age

behavior/neurological

ataxia ( J:170077 )

• at 2 weeks of age

homeostasis/metabolism

abnormal DNA repair ( J:170077 )

• DNA repair in response to ultraviolet irradiation or methylmethanesulphonate compared with wild-type astrocyte

• however, astrocytes exhibit normal DNA repair in response to ionizing radiation and hydrogen peroxide