Table 1.
Positional Cloning of Mutations Summary
| Allele | Gene | Mutation | Genetic Interval | Gene Function | Refs |
|---|---|---|---|---|---|
| L5Jcs1 | Tapt1 ** | see ref | see ref | Mutations causes homeotic-like skeletal transformations and perinatal lethality. | [11] |
| L5Jcs4 L5Jcs36 | Paxip1 ** | see ref | see ref | Vasculogenesis; DNA repair; epigenetic regulation | [10,36] |
| L5Jcs5 | Tbc1d14 | missense in TBC1 domain | M4-J57 (1.6 Mb) | TBC1 domain family; putative RAB GTPase activation protein. | |
| L5Jcs7 L5Jcs14 | Nop14 | SA site, exon 3 nonsense, exon 3 | J36-M268 600 kb | Nucleolar protein homolog; ribosome biosynthesis. | |
| L5Jcs11 | Tyms | T > A (ASN > LYS) | J63-M176 (1.1 Mb) | Thymidylate synthase | |
| L5Jcs37 | Rest * | C893G (P > R) | RE1-silencing transcription factor | [37] | |
| Dumbo | Hmx1** | see ref | see ref | Homeobox-containing gene | [38] |
| L5Jcs24 L5Jcs27 | Cad | See ref | M251-M334 M387-M353 | carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase. | in prep^ |
| L5Jcs31 | Haus3 | missense LEU > PRO in exon 4. | M388-J88 (1.8 Mb) | Subunit of augmin (HAUS) complex that regulates centrosome and spindle integrity. | |
| L5Jcs32 | Fbxl5 | missense MET > LYS | M105-J614 | Part of E3 ubiquitin ligase complex that regulates iron homeostasis. | [22,23] |
| L5Jcs8 | Ugdh * | nonsense | D5Ncnp1-J24 (1.3Mb) | UDP-glucose dehyrogenase; GAG biosynthesis; gastrulation. | [39] |
| Ste5Jcs1 | Nsun7 ** | see ref | see ref | Required for normal sperm motility and male fertility. | [40] |
| Deaf5Jcs1 | Otof ** | see ref | see ref | Otoferlin; inner hair cell neurotransmission | [41] |
*Separate alleles reported by others. ** Positional cloning of this allele previously reported. M = D5Mit; J = D5Jcs. Bolded alleles highlight that two alleles were identified. ^Ching & Schimenti et al will report on these alleles elsewhere. Alleles beginning with "L" are embryonic lethals; timing of lethality was reported previously [9].