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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Lrp6Cd
crooked
MGI:1861309
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Lrp6Cd/Lrp6Cd A-Lrp6Cd MGI:2661970
ht2
Lrp6Cd/Lrp6+ A-Lrp6Cd MGI:2661964
ht3
Lrp6Cd/Lrp6+ involves: A * 129/Sv MGI:3716708
ht4
Lrp6Cd/Lrp6+ involves: A * C57BL/6 MGI:3716707
ht5
Lrp6Cd/Lrp6+ involves: A * DBA MGI:3716706
ht6
Lrp6Cd/Lrp6Gt(Ex187)Byg involves: 129P2/OlaHsd * A MGI:3716638


Genotype
MGI:2661970
hm1
Allelic
Composition
Lrp6Cd/Lrp6Cd
Genetic
Background
A-Lrp6Cd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6Cd mutation (0 available); any Lrp6 mutation (95 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 16.4% die shortly after birth with exencephaly (J:13045)
• folic acid supplementation prolongs survival (J:58433)
• about 24% die after implantation
• about 23.6% are pre-implantation lethals (J:13045)

growth/size/body
• lower incisors are greatly reduced
• since there are no erupted lower incisors, there is continous growth and inward curving of the upper incisors; the teeth force themselves against the palate, cause ulcerations, inanition, and death
• crown cusp pattern of the molars is abnormal
• all mutants (30 of 30) show absence of at least one third molar (J:12998)
• most mutants have no third molars at all; only 3 of 30 mutants have just one third molar missing (J:12998)
• males are more severely affected than females (J:12998)
• however, upper and lower jaws are almost equally affected, with no differences between right and left (J:12998)
• all molars are significantly reduced in size; however, the greatest size reduction is confined to the third molars which tend to be absent (J:12998)
• the first molars are moderately reduced while the second molars are considerably reduced in size (J:12999)
• tooth germs that give rise to the third molars reach the cap stage but do not invaginate to form a bell
• regression of the third molars begins earlier and lasts longer, beginning on the 5th day instead of the 6th day in controls
• reduced and/or unerupted lower incisors (J:13045)
• molar development is slightly delayed such that at P3, when the enamel organ has reached the bud stage in wild-type, it is still in the early bud stage in mutants; this difference persists up to P8
• 4 of 17 mutants have bent noses; the nasals are not aligned with the medial suture of the paired frontals
• small mutants have elongate and pointed heads
• occasionally small mutants have inclined pinnae
• mutants are significantly smaller at birth and remain so thereafter
• about 28% of mutants are 1/2 to 1/3 the size of control littermates (J:13045)
• about 40% of the animals successfully complete neural tube closure but are runted (J:58433)
• the small mutants appear growth retarded and smaller around 16-20 days of age

nervous system
• variable penetrance of exencephaly; mutants with exencephaly are normal sized (J:13045)
• 20% exhibit exencephaly (J:58433)
• the neural folds in the mesencephalon remain separated in the midline and splay over the skull base (J:58433)
• females more than males display exencephaly (J:58433)
• folic acid supplementation reduces the risk of exencephaly by as much as 55%; females are more responsive to the folic acid than males (J:58433)
• mice display cranial but not spinal neural tube defects (J:101423)

skeleton
• mutants exhibit an inter-orbital pinched appearance of the frontals
• cranial bones are thinner
• lower incisors are greatly reduced
• since there are no erupted lower incisors, there is continous growth and inward curving of the upper incisors; the teeth force themselves against the palate, cause ulcerations, inanition, and death
• crown cusp pattern of the molars is abnormal
• all mutants (30 of 30) show absence of at least one third molar (J:12998)
• most mutants have no third molars at all; only 3 of 30 mutants have just one third molar missing (J:12998)
• males are more severely affected than females (J:12998)
• however, upper and lower jaws are almost equally affected, with no differences between right and left (J:12998)
• all molars are significantly reduced in size; however, the greatest size reduction is confined to the third molars which tend to be absent (J:12998)
• the first molars are moderately reduced while the second molars are considerably reduced in size (J:12999)
• tooth germs that give rise to the third molars reach the cap stage but do not invaginate to form a bell
• regression of the third molars begins earlier and lasts longer, beginning on the 5th day instead of the 6th day in controls
• reduced and/or unerupted lower incisors (J:13045)
• molar development is slightly delayed such that at P3, when the enamel organ has reached the bud stage in wild-type, it is still in the early bud stage in mutants; this difference persists up to P8
• 95% have abnormal caudal vertebrae (J:13045)
• seen on a rare occasion (J:13045)
• misshapen or fused vertebrae (J:101423)
• many caudal vertebrae are shortened, some so much that they appear as bone fragments
• 68.75% have lumbar abnormalities (J:13045)
• 26.5% have sacral abnormalities
• delayed skull ossification
• slower closure of sutures

craniofacial
• mutants exhibit an inter-orbital pinched appearance of the frontals
• cranial bones are thinner
• lower incisors are greatly reduced
• since there are no erupted lower incisors, there is continous growth and inward curving of the upper incisors; the teeth force themselves against the palate, cause ulcerations, inanition, and death
• crown cusp pattern of the molars is abnormal
• all mutants (30 of 30) show absence of at least one third molar (J:12998)
• most mutants have no third molars at all; only 3 of 30 mutants have just one third molar missing (J:12998)
• males are more severely affected than females (J:12998)
• however, upper and lower jaws are almost equally affected, with no differences between right and left (J:12998)
• all molars are significantly reduced in size; however, the greatest size reduction is confined to the third molars which tend to be absent (J:12998)
• the first molars are moderately reduced while the second molars are considerably reduced in size (J:12999)
• tooth germs that give rise to the third molars reach the cap stage but do not invaginate to form a bell
• regression of the third molars begins earlier and lasts longer, beginning on the 5th day instead of the 6th day in controls
• reduced and/or unerupted lower incisors (J:13045)
• molar development is slightly delayed such that at P3, when the enamel organ has reached the bud stage in wild-type, it is still in the early bud stage in mutants; this difference persists up to P8
• 4 of 17 mutants have bent noses; the nasals are not aligned with the medial suture of the paired frontals
• small mutants have elongate and pointed heads
• occasionally small mutants have inclined pinnae

limbs/digits/tail
• 95% have abnormal caudal vertebrae (J:13045)
• seen on a rare occasion (J:13045)
• misshapen or fused vertebrae (J:101423)
• many caudal vertebrae are shortened, some so much that they appear as bone fragments
• crooked tail

vision/eye
• occurs sometimes

behavior/neurological
• 58% of small mutants exhibit nervous head movement

hearing/vestibular/ear
• occasionally small mutants have inclined pinnae

respiratory system
• 4 of 17 mutants have bent noses; the nasals are not aligned with the medial suture of the paired frontals

embryo
• irregular somites at E14
• smaller somites with reduced intervertebral spaces

integument
• the coat of some small mutants appears to have an abnormal texture which makes them appear ungroomed
• sparse hairs on the tail; the hairs are short and bristle-like (J:13045)
• coats of some small mutants appears thin (J:13045)
• almost naked tail (J:12999)
• small mutants exhibit irregular, discontinuous tail rings (J:13045)
• skin on the tail lacks the proper tail rings (J:12999)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neural tube defect DOID:0080074 OMIM:301410
OMIM:601634
J:58433 , J:101423




Genotype
MGI:2661964
ht2
Allelic
Composition
Lrp6Cd/Lrp6+
Genetic
Background
A-Lrp6Cd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6Cd mutation (0 available); any Lrp6 mutation (95 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• in most cases, the number of abnormal caudal vertebrae is between 3 and 6
• many caudal vertebrae are shortened
• the number of crooks in the tails range from 0-6 (J:13045)
• Background Sensitivity: 41% of pups have a crooked tail; crooked tail is more prominent on the A background than others such as DBA, C57BL/6 and 129/Sv (J:58433)

skeleton
• abnormalities in the lumbar and sacral regions include lateral displacement of one or more vertebrae, dorsal spine duplication, deletion of a vertebral component and abnormally large parapophyses
• in most cases, the number of abnormal caudal vertebrae is between 3 and 6
• many caudal vertebrae are shortened
• 11.6% incidence of malfomred lumbar vertebrae
• 14.1% incidence of malfomred sacral vertebrae
• sometimes in the lumbar and sacral regions there is fusion of two adjacent vertebrae into a common body with one parapophysis on one sid and two parapophyses on the other




Genotype
MGI:3716708
ht3
Allelic
Composition
Lrp6Cd/Lrp6+
Genetic
Background
involves: A * 129/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6Cd mutation (0 available); any Lrp6 mutation (95 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• Background Sensitivity: 32% of pups have a crooked tail; higher percentage of pups have a crooked tail than on a DBA or C57BL/6 background but lower percentage than on the A background




Genotype
MGI:3716707
ht4
Allelic
Composition
Lrp6Cd/Lrp6+
Genetic
Background
involves: A * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6Cd mutation (0 available); any Lrp6 mutation (95 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• Background Sensitivity: 17% of pups have a crooked tail; a lower percentage of pups have a crooked tail on the C57BL/6 background than on a 129/Sv or A background




Genotype
MGI:3716706
ht5
Allelic
Composition
Lrp6Cd/Lrp6+
Genetic
Background
involves: A * DBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6Cd mutation (0 available); any Lrp6 mutation (95 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• Background Sensitivity: 14% of pups have a crooked tail; a lower percentage of pups have a crooked tail on the DBA background than on a C57BL/6, 129/Sv or A background




Genotype
MGI:3716638
ht6
Allelic
Composition
Lrp6Cd/Lrp6Gt(Ex187)Byg
Genetic
Background
involves: 129P2/OlaHsd * A
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6Cd mutation (0 available); any Lrp6 mutation (95 available)
Lrp6Gt(Ex187)Byg mutation (1 available); any Lrp6 mutation (95 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Lrp6Cd/Lrp6Gt(Ex187)Byg mice reveal a range of phenotypes

mortality/aging

limbs/digits/tail

nervous system

skeleton
• irregular spine with hemivertebrae
• irregular spine with fused vertebrae





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory