Analysis Tools|
Allele Symbol Allele Name Allele ID |
Lrp5tm1Lex targeted mutation 1, Lexicon Genetics MGI:3663738 |
||||||||||||||||||||||||
| Summary |
5 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• homozygotes have lower bone mineral density (BMD) than wild-type or heterozygous littermates; differences become significant at 29 days of age and persists thereafter
|
|
• mutants display this abnormality in eye vascularization
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• significantly reduced vs wild-type; present in all regions examined so values are not disproportionately reduced in animals with limb defects
|
|
• mice have decreased trabecular bone volume fraction (bone volume/tissue volume) compared to wild-type
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice display incompletely penetrant limb deformities (35% of mice), which follows a pattern of severity along both left-right and posterior-anterior axes; some animals have apparently normal limbs while others have a completely absent limb(s)
|
|
• in affected mice, typically digits 4 and/or 5 are missing in the forelimb
|
|
• 27% have affected right forelimbs while 1% have affected left forelimbs; 7% have both affected; none of these mice show hindlimb defects
|
|
• significantly reduced vs wild-type; present in all regions examined so values are not disproportionately reduced in animals with limb defects
|
|
• Lrp6 heterozygosity exacerbates the low bone mass phenotype
|
|
• most animals present between extremes of normal limbs vs absence of entire limb with either synostosis or reduction deformity of postaxial digits
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• significantly reduced vs wild-type; present in all regions examined so values are not disproportionately reduced in animals with limb defects
|
|
• often only one digit is present on hindlimbs of affected mice
|
|
• in affected mice, typically digits 4 and/or 5 are missing in the forelimb
|
|
• in hindlimbs, the talus, calcaneous, and other tarsal bones are malformed or absent
|
|
• 27% have defects in both forelimbs while 9% have defects in both forelimbs and in the right hindlimb
• defects are more severe in right forelimb vs left forelimb
|
|
• in 3 month old animals, skulls display reduced BMD when skull thickness is examined
|
|
• significantly reduced vs wild-type; present in all regions examined so values are not disproportionately reduced in animals with limb defects
|
|
• in hindlimbs, the talus, calcaneous, and other tarsal bones are malformed or absent
|
|
• significantly reduced vs wild-type; present in all regions examined so values are not disproportionately reduced in animals with limb defects
|
|
• Lrp6 heterozygosity exacerbates the low bone mass phenotype
|
|
• most animals present between extremes of normal limbs vs absence of entire limb with either synostosis or reduction deformity of postaxial digits
|
|
• in 3 month old animals, skulls display reduced BMD when skull thickness is examined
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• significantly reduced vs wild-type; present in all regions examined so values are not disproportionately reduced in animals with limb defects
|
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 |
|
|
|
||
