International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


POSTER 42 - ANALYSIS OF ENU MUTAGENESIS-DERIVED MUTANTS WITH ABNORMAL LIMB DEVELOPMENT

Masuya H
Mouse Functional Genomics Research Group, RIKEN GSC

Co-Authors: 1) Toki H, 1) Shimizu A, 1) Nagano J, 2) Gondo Y, 1) Wakana S, 1) Noda T, 1) Shiroishi T
Institutions: 1) Mouse Functional Genomics Research Group, RIKEN GSC 2) Population and Quantitative Genomics Team, RIKEN GSC

We have performed morphological screening for dominant phenotypes of adult mice in the ENU mutagenesis program in RIKEN GSC. One of the targets is morphological abnormality in limb, because limb development has been established as a good model system to study pattern formation, such as axis formation and positional specification, in vertebrates. Detection for the primary abnormalities was achieved by the Modified-SHIRPA screening protocol. In the screening, we added 18 tests to observe morphology to the original protocol. We have detected various mutants that showed shortening of limbs, joint and footpad anomalies. M100005 and M100216 exhibited shortening limbs, more severely in the hindlimbs than in the forelimbs. In contrast, M100413 and M100856 showed severe shortening in the forelimbs. In addition to shortening of the humerus, M100856 showed reduction in the radius, ulna and hind limbs, in the sever case. M100856 was mapped to chromosome 15. M100451 showed absence of the middle phalanx in the all four limbs. Histological analysis indicated that it might be a result of absence of joint formation between the middle and proximal phalanxes. M100451 was mapped to chromosome 2. M100103 and M101039 exhibited abnormal position of footpads in the posterior region of the autopods, indicating that positional information is disrupted in the affected region. This phenotype has not been reported so far in mice. We are now carrying out gene mapping and in-depth phenotype characterization of the M101039 homozygotes.


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