Analysis Tools|
Allele Symbol Allele Name Allele ID |
Lrp6Gt(Ex187)Byg gene trap Ex187, BayGenomics MGI:2156191 |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Summary |
18 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• axial truncation occurs in the lumbar region
|
 |
• complete absence
|
 |
• complete absence
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• homozygotes die at birth
|
|
• homozygotes fail to maintain the apical ectodermal ridge
|
|
• loss of paraxial mesoderm is seen at E9.5
|
|
• about half of homozygotes display spina bifida and/or exencephaly
|
|
• caudal somites are absent at E10.5
|
|
• at E9.5, sections through the tail bud reveal excess neural tissue and loss of paraxial mesoderm
|
|
• at E8.5, the tail bud is reduced in size
|
|
• about half of homozygotes display spina bifida and/or exencephaly
|
|
• at E10.5 the midbrain hindbrain boundary is less distinct
|
|
• at E14.5 the caudal midbrain is absent
|
|
• at birth the inferior colliculus is absent
|
|
• at birth the cerebellum is disorganized
|
|
• about half of homozygotes display spina bifida and/or exencephaly
|
|
• vertebrae caudal to the lumbar region are absent
|
|
• homozygotes fail to maintain the apical ectodermal ridge
|
|
• at E9.5, sections through the tail bud reveal excess neural tissue and loss of paraxial mesoderm
|
|
• at E8.5, the tail bud is reduced in size
|
|
• some of the remaining forelimb digits have ectopic tendons
|
|
• one or more posterior digits are missing on the forelimb and variable loss of anterior digits is seen
|
|
|
| ♀ | 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
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Lrp6Cd/Lrp6Gt(Ex187)Byg mice reveal a range of phenotypes
|
• irregular spine with hemivertebrae
|
|
• irregular spine with fused vertebrae
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• axial truncation occurs in the sacral region a more severe phenotype compare to Lrp6rs homozygotes but less severe than Lrp6Gt(pGT1.8TM)187Wcs homozygotes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• more severe in hind limbs than forelimbs
|
|
• tail truncation
|
|
• eyes of embryo are open
|
|
• missing retina or defective retinal closure
|
|
|
• complete absence
|
|
|
• complete absence
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• craniofacial defects are more severe than in Rspo2tm1Nuv homozygotes
|
|
• short
|
|
• in one mice
|
|
• in all mice
|
|
• in all mice
|
|
• short
|
|
• in one mice
|
|
• in all mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• no mice are detected at E18.5
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at later stages
|
|
• tubule abnormalities are consistent with nephronophthisis
|
|
• at later stages
|
|
• in one mouse
|
|
• at later stages
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| nephronophthisis | DOID:12712 |
OMIM:PS256100 |
J:154321 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• variable penetrance of tail kinks is seen and the penetrance is increased compared to either single heterozygote
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at E11.5 and E13.5 truncation of the tail is more severe than in Wnt3avt single homozygotes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• development arrested prior to E10.5
• homozygotes die by E18.5
|
|
• embryonic development normal until gastrulation
• visibly smaller and abnormal by E7.5
|
|
• absence of definitive endoderm
|
|
• no visible allantois
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• postaxial digit loss
• typically 1 digit lost on right forelimb
|
|
• loss of multiple ossification centers
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• development arrested prior to E10.5
• mice die by E18
|
|
• embryonic development normal until gastrulation
• posterior portion of the embryo sometimes remains undifferentiated
|
|
• failure of some nascent mesoderm to migrate properly from the primitive streak
|
|
• no visible somites
|
|
• by E7.5 an abnormal accumulation of cells protrudes into the amniotic cavity
|
|
• greatly enlarged by E7.5
• posterior regions of the brain not affected
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• reduced viability with deaths occurring after birth
|
|
• survivors are small as adults
|
|
• smaller size at E18.5
|
|
• missing carpal bones
|
|
• loss of one or two digits on the forelimb
• only 1 or 2 digits present in the hind limb
|
|
• missing metacarpals
|
|
• missing carpal bones
|
|
• missing metacarpals
|
|
|
| ♀ | 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
|
|
|
| ♀ | 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 |
|
• 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
|
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 11/12/2024 MGI 6.24 |
|
|
|
||
