Table 1.
Synteny-Defined Candidates for IS and CS.
| Mouse mutant or locus | Map position (chromosome, cM) | Human syntenic region | Human candidate(s) | Human syndrome(s) |
| Dbf (Pax3, Ihh) | 1, 40 | 2q35 | PAX3, IHH | Waardenburg, CFDH |
| Gli2 | 1, 63 | 2q14 | GLI2 | |
| Lmx1a | 1, 88.2 | 1q21–q23 | LMX1.1 | |
| Ltap | 1, 93.4 | 1q21–q23 | VANGL2 | |
| us and Lmx1b | 2, 14 and 21 | 9q34 | LMXIB | NP |
| rh and Hoxd | 2, 38 and 45 | 2q31 | HOXD cluster | |
| Pax1 and dm | 2, 82 and 80 | 20p11 | PAX1 | |
| Jun | 4, 44.6 | 1p31–32 | JUN | |
| sks and sno | 4, 54.6 and 58.3 | 1p33-p32.2 | COL9A2 | MED type 2 |
| ct | 4, 69 | 1p35 | PAX7, CRTM | |
| lx | 5, 22 | 4p16.1 | MSX1 | Wolf-Hirschorn |
| hop | 6, 13 | 7q22-qter | PTN, PAX4 | |
| tc | 6, 35.6 | 2p13-pII | TGFA | |
| Dll3 | 7, 10 | 19q13.2–q13.3 | DLL3 | |
| Tks | 9, 9 | llq22–q24 or 19p13.3-PI3.2 | MMP cluster or ACP5 | |
| lu | 9, 23 | llq22–q24 | MMP cluster | |
| Aft | 9, 32 | 15q23–q25 | CSK, PML | |
| tk | 9, 48 | 6q12–q13 | COL12A1 | |
| Ky | 9, 56 | 3q21 | MYLK | |
| Wnt3a | 11, 32 | 1q42 | WNT3A | |
| Ts | 11, 73.5 | 17q25 | TIMP2 | |
| Rbt | 11, 74 | 17q25 | TIMP2, CBX2 | |
| Bst | 16, 31.5 | 3q13.2 | COL8A1 | |
| Sim2 | 16, 67.6 | 21q22.2 | SIM2 | |
| mctl | 17, 18.5 | 6p21.3 | COL11A2, RXRB | type 2 Stickler, OSMED |
| Fbn-2 | 18, 29 | 5q23.3–q31 | FBN2 | CCA |
| ocd | 19, 6 | llql3 | LTBP3 |
CFDH, craniofacial deafness-hand syndrome; NP, nail-patella syndrome; MED, multiple epiphyseal dysplasia; OSMED, otospondylomegaepiphyseal dysplasia syndrome; CCA, congenital contractural arachnodactyly.