Analysis Tools|
Allele Symbol Allele Name Allele ID |
Lztr1em2Tumg endonuclease-mediated mutation 2, Yoko Aoki MGI:8163715 |
||||||||||||
| Summary |
2 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• no fetuses are obtained at E18.5 and fewer than the expected numbers are seen at E14.5 and E18.5
|
|
• immunostaining of back skin at E16.5 indicates lymphatic abnormalities
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• approximately 25% of mice survive for 2 years
|
|
• mice begin to die suddenly after 1 year of age without any obvious signs
|
|
• pups are not born at the expected Mendelian ratio, indicating partial embryonic lethality
|
|
• heart/body weight ratio is increased in 12- and 52-week-old mice and does not change between 12 and 52 weeks of age
|
|
• 12-week-old mice exhibit cardiomyocyte hypertrophy, with increased heart/body weight ratio and cardiomyocyte size
• however, no increase in fibrosis or apoptosis in the heart is seen
• treatment with the MEK inhibitor trametinib ameliorates cardiac hypertrophy
• however, the AKT/mTOR signaling inhibitor rapamycin does not improve cardiac hypertrophy
|
 |
• mice exhibit more blunt snouts with reduced length of the nasal bone
|
|
|
• body weight is lower until approximately 10 weeks of age, after which mice catch up with wild-type mice
|
|
|
• body length is lower until approximately 10 weeks of age, after which mice catch up with wild-type mice
|
|
|
• kidney/body weight ratio is increased
|
|
|
• splenomegaly
• treatment with trametinib does not alleviate splenomegaly
|
|
• heart/body weight ratio is increased in 12- and 52-week-old mice and does not change between 12 and 52 weeks of age
|
|
• 12-week-old mice exhibit cardiomyocyte hypertrophy, with increased heart/body weight ratio and cardiomyocyte size
• however, no increase in fibrosis or apoptosis in the heart is seen
• treatment with the MEK inhibitor trametinib ameliorates cardiac hypertrophy
• however, the AKT/mTOR signaling inhibitor rapamycin does not improve cardiac hypertrophy
|
|
|
• embryos exhibit edema and/or subcutaneous hemorrhage on E14.5 and E16.5
|
|
|
• rounder skulls
|
|
|
• mice exhibit more blunt snouts with reduced length of the nasal bone
|
|
|
• embryos exhibit edema and/or subcutaneous hemorrhage on E14.5 and E16.5
|
|
|
• splenomegaly
• treatment with trametinib does not alleviate splenomegaly
|
|
|
• immunostaining of back skin at E16.5 indicates lymphatic abnormalities
|
|
|
• embryos exhibit edema and/or subcutaneous hemorrhage on E14.5 and E16.5
|
|
|
• splenomegaly
• treatment with trametinib does not alleviate splenomegaly
|
|
|
• extramedullary hematopoiesis in the spleen and liver
|
|
|
• renal hypertrophy
• treatment with trametinib does not alleviate renal hypertrophy
|
|
|
• kidney/body weight ratio is increased
|
|
|
• mice exhibit more blunt snouts with reduced length of the nasal bone
|
|
|
• rounder skulls
|
|
|
• mice exhibit more blunt snouts with reduced length of the nasal bone
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Noonan syndrome 10 | DOID:0060588 |
OMIM:616564 |
J:361054 | |
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 03/25/2025 MGI 6.24 |
|
|
|
||
