Phenotypes associated with this allele

• Allele Symbol: Lmbr1^tm1Kng
• Allele Name: targeted mutation 1, David M Kingsley
• Allele ID: MGI:3579991
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lmbr1^tm1Kng/Lmbr1^tm1Kng	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2J	MGI:3580291
cx2	Lmbr1^tm1Kng/Del(5D5Mit73-D5Mit351)5Jcs	mixed	MGI:3582190

Genotype
MGI:3580291

hm1

• Allelic Composition: Lmbr1^tm1Kng/Lmbr1^tm1Kng
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2J

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

limbs/digits/tail

abnormal carpal bone morphology ( J:72166 )

• 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

brachyphalangia ( J:72166 )

• seen in 3% of homozygotes

oligodactyly ( J:72166 )

• low incidence (2%) of digit loss through either loss of the 5th digit or fusion of digits 3 and 4

syndactyly ( J:72166 )

• seen in 2% of forelimbs and 1% of hindlimbs

skeleton

abnormal carpal bone morphology ( J:72166 )

• 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

brachyphalangia ( J:72166 )

• seen in 3% of homozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acheiropody		DOID:0050603	OMIM:200500	J:72166

Genotype
MGI:3582190

cx2

• Allelic Composition: Lmbr1^tm1Kng/Del(5D5Mit73-D5Mit351)5Jcs
• Genetic Background: mixed

mortality/aging

postnatal lethality, incomplete penetrance ( J:72166 )

• fewer than expected mutants are present at weaning

limbs/digits/tail

abnormal carpal bone morphology ( J:72166 )

• 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

brachyphalangia ( J:72166 )

oligodactyly ( J:72166 )

• 55% of mutants had fewer than 5 digits with one third of these having only 3 digits

syndactyly ( J:72166 )

abnormal radius morphology ( J:72166 )

• 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

abnormal ulna morphology ( J:72166 )

• 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

growth/size/body

decreased body size ( J:72166 )

skeleton

abnormal carpal bone morphology ( J:72166 )

• 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

brachyphalangia ( J:72166 )

abnormal radius morphology ( J:72166 )

• 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

abnormal ulna morphology ( J:72166 )

• 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