Analysis Tools|
Allele Symbol Allele Name Allele ID |
Lrp6Gt(Ex187)Byg gene trap Ex187, BayGenomics MGI:2156191 |
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| Summary |
18 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• axial truncation occurs in the lumbar region
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• complete absence
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• complete absence
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• homozygotes die at birth
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• homozygotes fail to maintain the apical ectodermal ridge
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• loss of paraxial mesoderm is seen at E9.5
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• about half of homozygotes display spina bifida and/or exencephaly
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• caudal somites are absent at E10.5
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• at E9.5, sections through the tail bud reveal excess neural tissue and loss of paraxial mesoderm
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• at E8.5, the tail bud is reduced in size
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• about half of homozygotes display spina bifida and/or exencephaly
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• at E10.5 the midbrain hindbrain boundary is less distinct
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• at E14.5 the caudal midbrain is absent
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• at birth the inferior colliculus is absent
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• at birth the cerebellum is disorganized
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• about half of homozygotes display spina bifida and/or exencephaly
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• vertebrae caudal to the lumbar region are absent
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• homozygotes fail to maintain the apical ectodermal ridge
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• at E9.5, sections through the tail bud reveal excess neural tissue and loss of paraxial mesoderm
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• at E8.5, the tail bud is reduced in size
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• some of the remaining forelimb digits have ectopic tendons
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• one or more posterior digits are missing on the forelimb and variable loss of anterior digits is seen
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• significantly reduced vs wild-type; present in all regions examined so values are not disproportionately reduced in animals with limb defects
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Lrp6Cd/Lrp6Gt(Ex187)Byg mice reveal a range of phenotypes
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• irregular spine with hemivertebrae
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• irregular spine with fused vertebrae
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• axial truncation occurs in the sacral region a more severe phenotype compare to Lrp6rs homozygotes but less severe than Lrp6Gt(pGT1.8TM)187Wcs homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• more severe in hind limbs than forelimbs
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• tail truncation
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• eyes of embryo are open
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• missing retina or defective retinal closure
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• complete absence
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• complete absence
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• craniofacial defects are more severe than in Rspo2tm1Nuv homozygotes
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• short
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• in one mice
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• in all mice
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• in all mice
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• short
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• in one mice
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• in all mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no mice are detected at E18.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at later stages
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• tubule abnormalities are consistent with nephronophthisis
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• at later stages
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• in one mouse
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• at later stages
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| nephronophthisis | DOID:12712 |
OMIM:PS256100 |
J:154321 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• variable penetrance of tail kinks is seen and the penetrance is increased compared to either single heterozygote
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E11.5 and E13.5 truncation of the tail is more severe than in Wnt3avt single homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• development arrested prior to E10.5
• homozygotes die by E18.5
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• embryonic development normal until gastrulation
• visibly smaller and abnormal by E7.5
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• absence of definitive endoderm
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• no visible allantois
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• postaxial digit loss
• typically 1 digit lost on right forelimb
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• loss of multiple ossification centers
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• development arrested prior to E10.5
• mice die by E18
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• embryonic development normal until gastrulation
• posterior portion of the embryo sometimes remains undifferentiated
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• failure of some nascent mesoderm to migrate properly from the primitive streak
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• no visible somites
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• by E7.5 an abnormal accumulation of cells protrudes into the amniotic cavity
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• greatly enlarged by E7.5
• posterior regions of the brain not affected
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• reduced viability with deaths occurring after birth
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• survivors are small as adults
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• smaller size at E18.5
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• missing carpal bones
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• loss of one or two digits on the forelimb
• only 1 or 2 digits present in the hind limb
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• missing metacarpals
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• missing carpal bones
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• missing metacarpals
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• significantly reduced vs wild-type; present in all regions examined so values are not disproportionately reduced in animals with limb defects
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• significantly reduced vs wild-type; present in all regions examined so values are not disproportionately reduced in animals with limb defects
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• often only one digit is present on hindlimbs of affected mice
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• in affected mice, typically digits 4 and/or 5 are missing in the forelimb
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• in hindlimbs, the talus, calcaneous, and other tarsal bones are malformed or absent
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• 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
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• in 3 month old animals, skulls display reduced BMD when skull thickness is examined
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• significantly reduced vs wild-type; present in all regions examined so values are not disproportionately reduced in animals with limb defects
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• in hindlimbs, the talus, calcaneous, and other tarsal bones are malformed or absent
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• significantly reduced vs wild-type; present in all regions examined so values are not disproportionately reduced in animals with limb defects
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• Lrp6 heterozygosity exacerbates the low bone mass phenotype
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• most animals present between extremes of normal limbs vs absence of entire limb with either synostosis or reduction deformity of postaxial digits
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• in 3 month old animals, skulls display reduced BMD when skull thickness is examined
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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)
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• in affected mice, typically digits 4 and/or 5 are missing in the forelimb
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• 27% have affected right forelimbs while 1% have affected left forelimbs; 7% have both affected; none of these mice show hindlimb defects
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• significantly reduced vs wild-type; present in all regions examined so values are not disproportionately reduced in animals with limb defects
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• Lrp6 heterozygosity exacerbates the low bone mass phenotype
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• most animals present between extremes of normal limbs vs absence of entire limb with either synostosis or reduction deformity of postaxial digits
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 09/30/2025 MGI 6.24 |
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