IMPC phenotypes (allele matching)
- preweaning lethality, complete penetrance / IMPC
C57BL/6N-Atm1Brd Arpc3tm1a(EUCOMM)Wtsi Kmt2dm1Wtsi Tbx1ttch Muc3m1Wtsi/WtsiH[cc]
| Status | Available to order |
| EMMA ID | EM:13792 |
| International strain name | C57BL/6N-Atm1Brd Arpc3tm1a(EUCOMM)Wtsi Kmt2dm1Wtsi Tbx1ttch Muc3m1Wtsi/WtsiH[cc] |
| Alternative name | Twitch, Tbx1-ttch |
| Strain type | Targeted Mutant Strains |
| Allele/Transgene symbol | Arpc3tm1a(EUCOMM)Wtsi, |
| Gene/Transgene symbol | Arpc3 |
Information from provider
| Provider | Karen Steel |
| Provider affiliation | King |
| Genetic information | This is a missense variant in Tbx1, g.16:18584128C>T, which results in an amino acid change of p.(Asp212Asn) (ENSMUST00000232335). |
| Phenotypic information | Homozygous:Mice homozygous for the twitch (ttch) allele exhibited circling and head bobbing behaviour and had no auditory response to any stimulus up to 95dB SPL, associated with a malformed inner ear.Heterozygous:No obvious defect |
| Breeding history | These mutants were maintained for several years by intercrossing within a closed colony on the same C57BL/6N background that the mutation arose on. The original colony that showed this spontaneous mutation carried a targeted mutation of Arpc3 (Arpc3tm1a(EUCOMM)Wtsi) and this may still be present in the background. We also found two further spontaneous mutations that may still be present in the background of the cryopreserved mice: a 27bp in-frame deletion in the Kmt2d gene, g.15:98863687_98863713del mutation, resulting in a loss of 9 amino acids (ENSMUST00000023741, p.586-594del); and a missense mutation in the gene Muc13, g.16:33807881C |
| References |
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| Homozygous fertile | not known |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Kabuki syndrome / Orphanet_2322
- 22q11.2 deletion syndrome / Orphanet_567
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome / Orphanet_589856
Literature references
- Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme.;Lewis Morag A, Ingham Neil J, Chen Jing, Pearson Selina, Di Domenico Francesca, Rekhi Sohinder, Allen Rochelle, Drake Matthew, Willaert Annelore, Rook Victoria, Pass Johanna, Keane Thomas, Adams David J, Tucker Abigail S, White Jacqueline K, Steel Karen P, ;2022;BMC biology;20;67; 35296311