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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Lmbr1tm1Kng
targeted mutation 1, David M Kingsley
MGI:3579991
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Lmbr1tm1Kng/Lmbr1tm1Kng involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2J MGI:3580291
cx2
Lmbr1tm1Kng/Del(5D5Mit73-D5Mit351)1J mixed MGI:3582190


Genotype
MGI:3580291
hm1
Allelic
Composition
Lmbr1tm1Kng/Lmbr1tm1Kng
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmbr1tm1Kng mutation (0 available); any Lmbr1 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• seen in 3% of homozygotes
• low incidence (2%) of digit loss through either loss of the 5th digit or fusion of digits 3 and 4
• seen in 2% of forelimbs and 1% of hindlimbs
• minor coalitions of the distal wrist bones (central to distal carpal 3) are seen in 39% of homozygotes; coalitions are also seen in wild-type mice (32%) but involve central and distal carpal 2

skeleton
• seen in 3% of homozygotes
• minor coalitions of the distal wrist bones (central to distal carpal 3) are seen in 39% of homozygotes; coalitions are also seen in wild-type mice (32%) but involve central and distal carpal 2

Mouse Models of Human Disease
OMIM ID Ref(s)
Acheiropody; ACHP 200500 J:72166




Genotype
MGI:3582190
cx2
Allelic
Composition
Lmbr1tm1Kng/Del(5D5Mit73-D5Mit351)1J
Genetic
Background
mixed
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(5D5Mit73-D5Mit351)1J mutation (0 available); any Del(5D5Mit73-D5Mit351)1J mutation (0 available)
Lmbr1tm1Kng mutation (0 available); any Lmbr1 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected mutants are present at weaning

limbs/digits/tail
• 55% of mutants had fewer than 5 digits with one third of these having only 3 digits
• in forelimbs with severely affected wrists the distal ends of the radius and ulna are sometimes narrow and the junction of the radius and ulna is disorganized
• in forelimbs with severely affected wrists the distal ends of the radius and ulna are sometimes narrow and the junction of the radius and ulna is disorganized
• severe coalitions or reductions of the distal wrist bones involving distal carpal 2, 3 and/or the central as well as other distal carpals are seen in all mutants
• coalitions or reductions of the proximal wrist bones were seen in 36 out of 38 mutants

growth/size/body

skeleton
• in forelimbs with severely affected wrists the distal ends of the radius and ulna are sometimes narrow and the junction of the radius and ulna is disorganized
• in forelimbs with severely affected wrists the distal ends of the radius and ulna are sometimes narrow and the junction of the radius and ulna is disorganized
• severe coalitions or reductions of the distal wrist bones involving distal carpal 2, 3 and/or the central as well as other distal carpals are seen in all mutants
• coalitions or reductions of the proximal wrist bones were seen in 36 out of 38 mutants





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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory