All Phenotypes Lrp6<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Lrp6⁺
wild type
MGI:2436668

Summary

24 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Lrp6^Cd/Lrp6⁺	A-Lrp6^Cd	MGI:2661964
ht2	Lrp6^{Gt(LST067)Byg}/Lrp6⁺	B6.Cg-Lrp6^{Gt(LST067)Byg}	MGI:5317027
ht3	Lrp6^tm1Arma/Lrp6⁺	C57BL/6-Lrp6^tm1Arma	MGI:5694490
ht4	Lrp6^Gw/Lrp6⁺	involves: 101/H * BALB/c * C3H/HeH	MGI:4947303
ht5	Lrp6^Gw/Lrp6⁺	involves: 101/H * BALB/cOlaHsd * C3H/HeH	MGI:3057016
ht6	Lrp6^{Gt(LST067)Byg}/Lrp6⁺	involves: 129P2/OlaHsd	MGI:4417878
ht7	Lrp6^skax26/Lrp6⁺	involves: 129S6/SvEvTac * C57BL/6J	MGI:5571493
ht8	Lrp6^Gt(Ex187)Byg/Lrp6⁺	involves: 129/Sv * 129P2/OlaHsd * C57BL/6J * FVB/N	MGI:3664579
ht9	Lrp6^Cd/Lrp6⁺	involves: A * 129/Sv	MGI:3716708
ht10	Lrp6^Cd/Lrp6⁺	involves: A * C57BL/6	MGI:3716707
ht11	Lrp6^Cd/Lrp6⁺	involves: A * DBA	MGI:3716706
cx12	Ctnnb1^Bfc/Ctnnb1⁺ Dkk1^tm1Lmgd/Dkk1⁺ Lrp6^Gw/Lrp6⁺	either: (involves: 101/H * 129 * BALB/cCrl * C3H) or (involves: 101/H * 129 * BALB/cCrl * C3H * C57BL/6)	MGI:4947311
cx13	Ctnnb1^Bfc/Ctnnb1⁺ Lrp6^Gw/Lrp6⁺	either: (involves: 101/H * BALB/cCrl * C3H) or (involves: 101/H * BALB/cCrl * C3H * C57BL/6)	MGI:4947310
cx14	Dkk1^tm1Lmgd/Dkk1⁺ Lrp6^Gw/Lrp6⁺	involves: 101/H * 129 * BALB/c * C3H	MGI:4947305
cx15	Lrp6^Gw/Lrp6⁺ Wnt3^tm1Brd/Wnt3⁺	involves: 101/H * 129S7/SvEvBrd * BALB/c * C3H	MGI:4947304
cx16	Lrp6^Gt(Ex187)Byg/Lrp6⁺ Rspo2^tm1Nuv/Rspo2^tm1Nuv	involves: 129 * 129P2/OlaHsd * C57BL/6	MGI:5004935
cx17	Ahi1^tm1Jgg/Ahi1⁺ Lrp6^Gt(Ex187)Byg/Lrp6⁺	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ	MGI:4367782
cx18	Lrp6^Gt(Ex187)Byg/Lrp6⁺ Wnt3a^vt/Wnt3a^vt	involves: 129P2/OlaHsd * C57BL/6 * C57BR	MGI:3604380
cx19	Lrp6^Gt(Ex187)Byg/Lrp6⁺ Wnt3a^vt/Wnt3a⁺	involves: 129P2/OlaHsd * C57BL/6 * C57BR	MGI:3604382
cx20	Lrp5^tm1Jfh/Lrp5^tm1Jfh Lrp6^Gt(Ex187)Byg/Lrp6⁺	involves: 129S5/SvEvBrd * C57BL/6	MGI:3046421
cx21	Lrp5^tm1Jfh/Lrp5⁺ Lrp6^Gt(Ex187)Byg/Lrp6⁺	involves: 129S5/SvEvBrd * C57BL/6	MGI:3046423
cx22	Lrp5^tm1Lex/Lrp5^tm1Lex Lrp6^Gt(Ex187)Byg/Lrp6⁺	involves: 129/Sv * 129P2/OlaHsd * C57BL/6J * FVB/N	MGI:3664576
cx23	Lrp5^tm1Lex/Lrp5⁺ Lrp6^Gt(Ex187)Byg/Lrp6⁺	involves: 129/Sv * 129P2/OlaHsd * C57BL/6J * FVB/N	MGI:3664573
cx24	Lrp6^skax26/Lrp6⁺ Vangl2^Lp/Vangl2⁺	involves: A/J * 129S6/SvEvTac * C57BL/6 * C57BL/6J	MGI:5571494

Allelic Composition	Lrp6^Cd/Lrp6⁺
Genetic Background	A-Lrp6^Cd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6^Cd mutation (0 available); any Lrp6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

abnormal caudal vertebrae morphology ( J:13045 )

• in most cases, the number of abnormal caudal vertebrae is between 3 and 6

small caudal vertebrae ( J:13045 )

• many caudal vertebrae are shortened

kinked tail ( J:58433 , 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)

• the number of crooks in the tails range from 0-6 (J:13045)

skeleton

abnormal vertebrae morphology ( J:13045 )

• 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

abnormal caudal vertebrae morphology ( J:13045 )

• in most cases, the number of abnormal caudal vertebrae is between 3 and 6

small caudal vertebrae ( J:13045 )

• many caudal vertebrae are shortened

abnormal lumbar vertebrae morphology ( J:13045 )

• 11.6% incidence of malfomred lumbar vertebrae

abnormal sacral vertebrae morphology ( J:13045 )

• 14.1% incidence of malfomred sacral vertebrae

vertebral fusion ( J:13045 )

• 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

Allelic Composition	Lrp6^{Gt(LST067)Byg}/Lrp6⁺
Genetic Background	B6.Cg-Lrp6^{Gt(LST067)Byg}

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6^{Gt(LST067)Byg} mutation (0 available); any Lrp6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

adipose tissue

abnormal brown adipose tissue morphology ( J:182772 )

• mutants fed a high-fat diet exhibit a lower ATP content in brown adipose tissue (BAT)

increased brown fat cell number ( J:182772 )

• mutants fed a high-fat diet exhibit an increase in brown adipocytes in the interscapular BAT

growth/size/body

decreased body weight ( J:182772 )

• mutants fed a regular-chow diet tend to have lower body weights compared to controls

decreased susceptibility to diet-induced obesity ( J:182772 )

• mutants fed a high-fat diet are protected from diet-induced obesity compared to wild-type mice; mutants weight less and have lower body fat

homeostasis/metabolism

decreased susceptibility to diet-induced obesity ( J:182772 )

• mutants fed a high-fat diet are protected from diet-induced obesity compared to wild-type mice; mutants weight less and have lower body fat

decreased susceptibility to induced hypothermia ( J:182772 )

• mutants fed a high-fat diet exhibit enhanced adaption to cold challenges and a lesser decrease in body temperatures compared to wild-type mice

decreased circulating glucose level ( J:182772 )

• mutants fed a high-fat diet, but not on a regular chow-diet, exhibit lower baseline serum glucose levels than wild-type mice

improved glucose tolerance ( J:182772 )

• mutants fed a high-fat diet exhibit enhanced glucose tolerance compared to wild-type mice during IPGTT

increased insulin sensitivity ( J:182772 )

• mutants fed a high-fat diet exhibit enhanced adipose tissue and hepatic insulin sensitivity compared to wild-type mice on the same diet

• - mutants fed a high-fat diet undergoing intraperitoneal glucose tolerance test (IPGTT) display reduced serum insulin responses despite lower serum glucose levels, indicating higher insulin sensitivity compared to wild-type mice

increased circulating adiponectin level ( J:182772 )

• mutants fed a high-fat diet show a 1.2-fold increase in serum adiponectin levels compared to wild-type mice

decreased liver triglyceride level ( J:182772 )

• mutants fed a high-fat diet exhibit lower hepatic fat and hepatic triglyceride contents

liver/biliary system

abnormal liver morphology ( J:182772 )

• mutants fed a high-fat diet exhibit lower hepatic fat and hepatic triglyceride contents

decreased liver triglyceride level ( J:182772 )

• mutants fed a high-fat diet exhibit lower hepatic fat and hepatic triglyceride contents

abnormal liver physiology ( J:182772 )

• mutants on a high-fat diet exhibit reduced endogenous hepatic glucose output

Allelic Composition	Lrp6^tm1Arma/Lrp6⁺
Genetic Background	C57BL/6-Lrp6^tm1Arma

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6^tm1Arma mutation (0 available); any Lrp6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

homeostasis/metabolism

increased circulating triglyceride level ( J:210538 )

• modest elevation of plasma triglycerides in 3 month old mice fed a chow diet

increased cholesterol level ( J:210538 )

• chow fed 3 month old mice show higher total cholesterol levels

increased circulating LDL cholesterol level ( J:210538 )

• chow fed 3 month old mice show higher LDL cholesterol levels

Allelic Composition	Lrp6^Gw/Lrp6⁺
Genetic Background	involves: 101/H * BALB/c * C3H/HeH

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6^Gw mutation (0 available); any Lrp6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

kinked tail ( J:170646 )

• in more than half of mice

• 68% of mice exhibit bent tails unlike wild-type mice

nervous system

abnormal forebrain morphology ( J:170646 )

• in 10% of mice

growth/size/body

abnormal head morphology ( J:170646 )

• in 33% of mice

Allelic Composition	Lrp6^Gw/Lrp6⁺
Genetic Background	involves: 101/H * BALB/cOlaHsd * C3H/HeH

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6^Gw mutation (0 available); any Lrp6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

kinked tail ( J:93195 )

• crooked tail

Allelic Composition	Lrp6^{Gt(LST067)Byg}/Lrp6⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6^{Gt(LST067)Byg} mutation (0 available); any Lrp6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

homeostasis/metabolism

abnormal lipid homeostasis ( J:155275 )

• LDL uptake by mutant splenic B cells is 30% less than for controls

Allelic Composition	Lrp6^skax26/Lrp6⁺
Genetic Background	involves: 129S6/SvEvTac * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6^skax26 mutation (0 available); any Lrp6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

curly tail ( J:206979 )

• kinky/looped tail in a few mice

kinked tail ( J:206979 )

• kinky/looped tail in a few mice

Allelic Composition	Lrp6^Gt(Ex187)Byg/Lrp6⁺
Genetic Background	involves: 129/Sv * 129P2/OlaHsd * C57BL/6J * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6^Gt(Ex187)Byg mutation (1 available); any Lrp6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

skeleton

decreased bone mineral density ( J:111359 )

• significantly reduced vs wild-type; present in all regions examined so values are not disproportionately reduced in animals with limb defects

Allelic Composition	Lrp6^Cd/Lrp6⁺
Genetic Background	involves: A * 129/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6^Cd mutation (0 available); any Lrp6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

kinked tail ( J:58433 )

• 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

Allelic Composition	Lrp6^Cd/Lrp6⁺
Genetic Background	involves: A * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6^Cd mutation (0 available); any Lrp6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

kinked tail ( J:58433 )

• 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

Allelic Composition	Lrp6^Cd/Lrp6⁺
Genetic Background	involves: A * DBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6^Cd mutation (0 available); any Lrp6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

kinked tail ( J:58433 )

• 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

Allelic Composition	Ctnnb1^Bfc/Ctnnb1⁺ Dkk1^tm1Lmgd/Dkk1⁺ Lrp6^Gw/Lrp6⁺
Genetic Background	either: (involves: 101/H * 129 * BALB/cCrl * C3H) or (involves: 101/H * 129 * BALB/cCrl * C3H * C57BL/6)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnnb1^Bfc mutation (3 available); any Ctnnb1 mutation (51 available)
Dkk1^tm1Lmgd mutation (0 available); any Dkk1 mutation (19 available)
Lrp6^Gw mutation (0 available); any Lrp6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

embryo

caudal body truncation ( J:170646 )

• 23% of mice exhibit complete head truncation unlike wild-type mice

growth/size/body

abnormal head size ( J:170646 )

• all mice exhibit head reduction defects unlike wild-type mice

Allelic Composition	Ctnnb1^Bfc/Ctnnb1⁺ Lrp6^Gw/Lrp6⁺
Genetic Background	either: (involves: 101/H * BALB/cCrl * C3H) or (involves: 101/H * BALB/cCrl * C3H * C57BL/6)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnnb1^Bfc mutation (3 available); any Ctnnb1 mutation (51 available)
Lrp6^Gw mutation (0 available); any Lrp6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

growth/size/body

abnormal head size ( J:170646 )

• 86% of mice exhibit head reduction defects unlike wild-type mice

Allelic Composition	Dkk1^tm1Lmgd/Dkk1⁺ Lrp6^Gw/Lrp6⁺
Genetic Background	involves: 101/H * 129 * BALB/c * C3H

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dkk1^tm1Lmgd mutation (0 available); any Dkk1 mutation (19 available)
Lrp6^Gw mutation (0 available); any Lrp6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

kinked tail ( J:170646 )

• in all mice

growth/size/body

abnormal head morphology ( J:170646 )

• in 40-43% of mice

Allelic Composition	Lrp6^Gw/Lrp6⁺ Wnt3^tm1Brd/Wnt3⁺
Genetic Background	involves: 101/H * 129S7/SvEvBrd * BALB/c * C3H

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6^Gw mutation (0 available); any Lrp6 mutation (94 available)
Wnt3^tm1Brd mutation (0 available); any Wnt3 mutation (29 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

kinked tail ( J:170646 )

• in 22% of mice

Allelic Composition	Lrp6^Gt(Ex187)Byg/Lrp6⁺ Rspo2^tm1Nuv/Rspo2^tm1Nuv
Genetic Background	involves: 129 * 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6^Gt(Ex187)Byg mutation (1 available); any Lrp6 mutation (94 available)
Rspo2^tm1Nuv mutation (0 available); any Rspo2 mutation (21 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

craniofacial

abnormal craniofacial morphology ( J:171482 )

• craniofacial defects are more severe than in Rspo2^tm1Nuv homozygotes

short Meckel's cartilage ( J:171482 )

• short

decreased cranium height ( J:171482 )

short mandible ( J:171482 )

short maxilla ( J:171482 )

cleft upper lip ( J:171482 )

• in one mice

cleft palate ( J:171482 )

• in all mice

digestive/alimentary system

cleft palate ( J:171482 )

• in all mice

skeleton

short Meckel's cartilage ( J:171482 )

• short

decreased cranium height ( J:171482 )

short mandible ( J:171482 )

short maxilla ( J:171482 )

growth/size/body

short mandible ( J:171482 )

short maxilla ( J:171482 )

cleft upper lip ( J:171482 )

• in one mice

cleft palate ( J:171482 )

• in all mice

Allelic Composition	Ahi1^tm1Jgg/Ahi1⁺ Lrp6^Gt(Ex187)Byg/Lrp6⁺
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahi1^tm1Jgg mutation (1 available); any Ahi1 mutation (80 available)
Lrp6^Gt(Ex187)Byg mutation (1 available); any Lrp6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

renal/urinary system

kidney cyst ( J:154321 )

• at later stages

small kidney ( J:154321 )

abnormal renal tubule morphology ( J:154321 )

• tubule abnormalities are consistent with nephronophthisis

dilated renal tubule ( J:154321 )

• at later stages

homeostasis/metabolism

increased circulating creatinine level ( J:154321 )

• in one mouse

growth/size/body

kidney cyst ( J:154321 )

• at later stages

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nephronophthisis		DOID:12712	OMIM:PS256100	J:154321

Allelic Composition	Lrp6^Gt(Ex187)Byg/Lrp6⁺ Wnt3a^vt/Wnt3a^vt
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * C57BR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6^Gt(Ex187)Byg mutation (1 available); any Lrp6 mutation (94 available)
Wnt3a^vt mutation (1 available); any Wnt3a mutation (29 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

vestigial tail ( J:64989 )

• at E11.5 and E13.5 truncation of the tail is more severe than in Wnt3a^vt single homozygotes

Allelic Composition	Lrp6^Gt(Ex187)Byg/Lrp6⁺ Wnt3a^vt/Wnt3a⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * C57BR

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

kinked tail ( J:64989 )

• variable penetrance of tail kinks is seen and the penetrance is increased compared to either single heterozygote

Allelic Composition	Lrp5^tm1Jfh/Lrp5^tm1Jfh Lrp6^Gt(Ex187)Byg/Lrp6⁺
Genetic Background	involves: 129S5/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp5^tm1Jfh mutation (0 available); any Lrp5 mutation (83 available)
Lrp6^Gt(Ex187)Byg mutation (1 available); any Lrp6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

postnatal lethality, incomplete penetrance ( J:91055 )

• reduced viability with deaths occurring after birth

growth/size/body

decreased body size ( J:91055 )

• survivors are small as adults

decreased fetal size ( J:91055 )

• smaller size at E18.5

limbs/digits/tail

absent carpal bone ( J:91055 )

• missing carpal bones

oligodactyly ( J:91055 )

• loss of one or two digits on the forelimb

• only 1 or 2 digits present in the hind limb

absent fibula ( J:91055 )

absent metacarpal bones ( J:91055 )

• missing metacarpals

skeleton

absent carpal bone ( J:91055 )

• missing carpal bones

absent fibula ( J:91055 )

absent metacarpal bones ( J:91055 )

• missing metacarpals

Allelic Composition	Lrp5^tm1Jfh/Lrp5⁺ Lrp6^Gt(Ex187)Byg/Lrp6⁺
Genetic Background	involves: 129S5/SvEvBrd * C57BL/6

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

forelimb oligodactyly ( J:91055 )

• postaxial digit loss

• typically 1 digit lost on right forelimb

skeleton

abnormal bone ossification ( J:91055 )

• loss of multiple ossification centers

Allelic Composition	Lrp5^tm1Lex/Lrp5^tm1Lex Lrp6^Gt(Ex187)Byg/Lrp6⁺
Genetic Background	involves: 129/Sv * 129P2/OlaHsd * C57BL/6J * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp5^tm1Lex mutation (0 available); any Lrp5 mutation (83 available)
Lrp6^Gt(Ex187)Byg mutation (1 available); any Lrp6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

abnormal limb morphology ( J:111359 )

abnormal carpal bone morphology ( J:111359 )

• significantly reduced vs wild-type; present in all regions examined so values are not disproportionately reduced in animals with limb defects

monodactyly ( J:111359 )

• often only one digit is present on hindlimbs of affected mice

forelimb oligodactyly ( J:111359 )

• in affected mice, typically digits 4 and/or 5 are missing in the forelimb

abnormal tarsal bone morphology ( J:111359 )

• in hindlimbs, the talus, calcaneous, and other tarsal bones are malformed or absent

abnormal forelimb morphology ( J:111359 )

• 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

abnormal hindlimb morphology ( J:111359 )

skeleton

abnormal cranium morphology ( J:111359 )

• in 3 month old animals, skulls display reduced BMD when skull thickness is examined

abnormal carpal bone morphology ( J:111359 )

• significantly reduced vs wild-type; present in all regions examined so values are not disproportionately reduced in animals with limb defects

abnormal tarsal bone morphology ( J:111359 )

• in hindlimbs, the talus, calcaneous, and other tarsal bones are malformed or absent

decreased bone mineral density ( J:111359 )

• significantly reduced vs wild-type; present in all regions examined so values are not disproportionately reduced in animals with limb defects

decreased bone mass ( J:111359 )

• Lrp6 heterozygosity exacerbates the low bone mass phenotype

synostosis ( J:111359 )

• most animals present between extremes of normal limbs vs absence of entire limb with either synostosis or reduction deformity of postaxial digits

craniofacial

abnormal cranium morphology ( J:111359 )

• in 3 month old animals, skulls display reduced BMD when skull thickness is examined

Allelic Composition	Lrp5^tm1Lex/Lrp5⁺ Lrp6^Gt(Ex187)Byg/Lrp6⁺
Genetic Background	involves: 129/Sv * 129P2/OlaHsd * C57BL/6J * FVB/N

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

abnormal limb morphology ( J:111359 )

• 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)

forelimb oligodactyly ( J:111359 )

• in affected mice, typically digits 4 and/or 5 are missing in the forelimb

abnormal forelimb morphology ( J:111359 )

• 27% have affected right forelimbs while 1% have affected left forelimbs; 7% have both affected; none of these mice show hindlimb defects

skeleton

decreased bone mineral density ( J:111359 )

• significantly reduced vs wild-type; present in all regions examined so values are not disproportionately reduced in animals with limb defects

decreased bone mass ( J:111359 )

• Lrp6 heterozygosity exacerbates the low bone mass phenotype

synostosis ( J:111359 )

• most animals present between extremes of normal limbs vs absence of entire limb with either synostosis or reduction deformity of postaxial digits

Allelic Composition	Lrp6^skax26/Lrp6⁺ Vangl2^Lp/Vangl2⁺
Genetic Background	involves: A/J * 129S6/SvEvTac * C57BL/6 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp6^skax26 mutation (0 available); any Lrp6 mutation (94 available)
Vangl2^Lp mutation (2 available); any Vangl2 mutation (30 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

hearing/vestibular/ear

abnormal orientation of outer hair cell stereociliary bundles ( J:206979 )

• everely affected in OHC2 and OHC3 layers at all three regions analyzed except for OHC3 in the middle region of the organ of Corti

limbs/digits/tail

curly tail ( J:206979 )

• kinky/looped tail in most mice

kinked tail ( J:206979 )

• kinky/looped tail in most mice

embryo

spina bifida ( J:206979 )

• in some mice unlike single heterozygotes

nervous system

spina bifida ( J:206979 )

• in some mice unlike single heterozygotes

abnormal orientation of outer hair cell stereociliary bundles ( J:206979 )

• everely affected in OHC2 and OHC3 layers at all three regions analyzed except for OHC3 in the middle region of the organ of Corti

Contributing Projects: 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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