Table 2.
Summary of Phenotypes of Different Genotypic Classes, as Assessed by ABAR Staining of P0 Mice
| Phenotype | Wild type | R26 ACVR1/+ | Acvr1 R206H/+ | Acvr1R206H/+; R26ACVR1/+ | Acvr1 R206H/− | Acvr1R206H/−; R26ACVR1/+ |
|---|---|---|---|---|---|---|
| Found dead | 1/18 (5.6%) | 1/14 (7.1%) | 3/20 (6.0%) | 0/27 (0%) | 10/10 (100%) | 1/15 (6.7%) |
| Spina bifida | 0/16 (0%) | 0/13 (0%) | 20/20 (100%) | 0/27 (0%) | 8/8 (100%) | 0/15 (0%) |
| Costovertebral fusion | 0/16 (0%) | 0/14 (0%) | 20/20 (100%) | 0/27 (0%) | 8/8 (100%) | 0/15 (0%) |
| Intervertebral fusion | 0/16 (0%) | 0/14 (0%) | 0/20 (0%) | 0/27 (0%) | 8/8 (100%) | 0/15 (0%) |
| L1 supernumerary rib | 2/16 (12.5%) | 5/14 (35.7%) | 16/20 (80%) | 13/27 (48.1%) | 8/8 (100%) | 9/15 (60.0%) |
| Zeugopod truncation | 0/18 (0%) | 0/14 (0%) | 20/20 (100%) | 0/27 (0%) | 9/9 (100%) | 0/15 (0%) |
| Metacarpal/metatarsal-phalangeal fusion | 0/18 (0%) | 0/13 (0%) | 20/20 (100%) | 0/27 (0%) | 9/9 (100%) | 0/14 (0%) |
Differences in numbers of mice scored within a group reflect damage during processing and inability to score a particular phenotype. For Acvr1R206H/− genotypes, the null allele was either the unrecombined Acvr1tnR206H allele or the germline-recombined Acvr1loxP allele.