Analysis Tools|
Allele Symbol Allele Name Allele ID |
Mfn1tm2Dcc targeted mutation 2, David C Chan MGI:3779080 |
||||||||||||||||||||||||||||||||||||||||||||||||||||
| Summary |
12 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• fibroblast derived from mutant animals exhibit Cre-dependent mitochondrial fragmentation
• loss of mtDNA nucleoids from a significant fraction of mitochondria
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• Purkinje cell death in 9 weeks-old mutant mice cerebella
|
|
• Purkinje cell dendrite attenuation in 9 weeks-old mutant mice cerebella
|
|
• decreased cytochrome C oxidase activity and increased succinate dehydrogenase activity in Purkinje cells of 9-weeks-old mutant mice indicating the electron transport chain dysfunction in mitochondria
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• normal cerebella containing a uniform, unbroken Purkinje cell monolayer similar to that in wild-type mice at 9-week-old
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• embryos die during mid-gestation similar to Mfn1tm1Dcc homozygous embryos
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice show no abnormal phenotype up to 1 year of age
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice exhibit anxiety-like behavior, showing reduced distance traveled, reduced distance in the center and much less time spend in the center of the open field test
|
|
• mice spend much less time in the center of the open-field test
|
|
• CD4+ T cells exhibit reduced activities of oxidative phosphorylation and glycolysis
|
|
• CD4+ T cells exhibit reduced activities of oxidative phosphorylation and glycolysis
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 |
• TEM analysis of adult testes showed mitochondrial swelling and fragmentation in male germ cells
|
|
|
• male germ cells exhibit increased mitochondrial fission
|
|
|
• seminiferous tubules exhibit severe vacuolization defects as early as P28
|
|
|
• adult testis size is grossly smaller than that in controls
|
|
|
• testis weight/body weight ratio is significantly decreased from P25 to P180
|
|
|
• adult epididymis size is grossly smaller than that in controls
|
|
N |
• immunofluorescent images of ATP5A (an outer mitochondria membrane marker) showed normal mitochondrial distribution in testicular sections at P25
• calreticulin -- a mitochondria-associated ER membranes (MAMs) and ER marker protein -- does not exhibit any abnormally diffused signal pattern in spermatocytes
|
|
|
• TEM analysis of adult testes showed mitochondrial swelling and fragmentation in male germ cells
|
|
|
• TEM analysis of adult testes showed mitochondrial swelling and fragmentation in male germ cells
|
|
|
• adult testes show a significant increase in mitochondrial DNA copy number at P60
|
|
|
• cytochrome c oxidase (COX, complex IV) activity is increased in adult testis sections
• in contrast, succinate dehydrogenase (SDH, complex II) activity is normal
|
|
|
• male germ cells exhibit increased mitochondrial fission
|
|
|
• male germ cells exhibit increased mitochondrial fission
|
|
|
• seminiferous tubules exhibit severe vacuolization defects as early as P28
|
|
|
• adult testis size is grossly smaller than that in controls
|
|
|
• testis weight/body weight ratio is significantly decreased from P25 to P180
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• almost no round spermatids are detected in testes at P25
|
|
|
• diameter of seminiferous tubules is significantly decreased at P14, P18, P25 and P60
|
|
|
• adult testes show a significantly higher number of atrophic and vacuolated seminiferous tubules
|
|
|
• adult testis size is much smaller than that in either single conditional knockout
|
|
|
• adult testis weight/body weight ratio is significantly lower than that in either single conditional knockout
|
|
|
• at P25 and P56, double conditional mutant males exhibit much more severe spermatogenic defects than either single conditional knockout
|
|
|
• almost no round spermatids are detected in testes at P25
|
|
|
• at P25, mitochondria are abnormally aggregated to one side of the cytoplasm in spermatocytes, unlike in either single conditional knockout where mitochondria distribution is normal
|
|
|
• males fail to complete meiosis; almost no post-meiotic round spermatids are found at P25
|
|
|
• adult epididymis size is much smaller than that in either single conditional knockout
|
|
|
• almost no round spermatids are detected in testes at P25
|
|
|
• at P25, mitochondria are abnormally aggregated to one side of the cytoplasm in spermatocytes, unlike in either single conditional knockout where mitochondria distribution is normal
|
|
|
• almost no round spermatids are detected in testes at P25
|
|
|
• at P25, mitochondria are abnormally aggregated to one side of the cytoplasm in spermatocytes, unlike in either single conditional knockout where mitochondria distribution is normal
|
|
|
• males fail to complete meiosis; almost no post-meiotic round spermatids are found at P25
|
|
|
• diameter of seminiferous tubules is significantly decreased at P14, P18, P25 and P60
|
|
|
• adult testes show a significantly higher number of atrophic and vacuolated seminiferous tubules
|
|
|
• adult testis size is much smaller than that in either single conditional knockout
|
|
|
• adult testis weight/body weight ratio is significantly lower than that in either single conditional knockout
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mutant pups are born at appropriate Mendelian ratio
• mutant mice that survive the neonatal period die by P17
|
|
• after birth, about one third of mutant mice die on postnatal day 1
|
|
• mice surviving beyond P1 cannot easily regain posture when placed on their backs
|
|
• mice surviving beyond P1 display uncoordinated limb movements, and move primarily by writhing on their abdomen
|
|
• mice surviving beyond P1 are severely runted, likely due to feeding problems secondary to their movement disorder
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mutant mice survive through adulthood with no obvious defects
• both males and females are fully fertile and healthy to at least one year
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 12/10/2024 MGI 6.24 |
|
|
|
||
