Mouse Genome Informatics
hm1
    Lmbr1tm1Kng/Lmbr1tm1Kng
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Acheiropody; ACHP 200500 J:72166


Mouse Genome Informatics
cx2
    Lmbr1tm1Kng/Del(5D5Mit73-D5Mit351)1J
mixed
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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

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