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Table 1 Positional Cloning of Mutations Summary

From: High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5

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]
  1. *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].