MGI phenotypes (allele matching)
B6.129S2-Hoxb1tm1.1Mist/Cnrm
| Status | Available to order |
| EMMA ID | EM:04421 |
| Citation information | RRID:IMSR_EM:04421 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | B6.129S2-Hoxb1tm1.1Mist/Cnrm |
| Alternative name | Hoxb1 null |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Hoxb1tm1.1Mist |
| Gene/Transgene symbol | Hoxb1 |
Information from provider
| Provider | Michele Studer |
| Provider affiliation | Telethon Institute of Genetics and Medicine |
| Genetic information | Targeting construct is derived from 129 DNA. The first exon and part of the 5' regulatory regions are deleted by Cre-recombinase in vitro. One loxP site is maintained. |
| Phenotypic information | Defects in the differentiation of facial motor and auditory nuclei. |
| Breeding history | The line has been bred for more than 10 generations on a C57BL/6 strain, but it is not pure yet. Currently undergoing inbred mating. |
| References | None available |
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
| Animals used for archiving | heterozygous C57BL/6.129/Sv males, wild-type C57BL/6J females |
| Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Congenital hereditary facial paralysis-variable hearing loss syndrome / Orphanet_306530
MGI phenotypes (gene matching)
- abnormal craniofacial morphology / MGI
- absent facial nuclei / MGI
- abnormal facial motor nucleus morphology / MGI
- small facial motor nucleus / MGI
- decreased sensory neuron number / MGI
- abnormal facial nerve morphology / MGI
- decreased body size / MGI
- abnormal reflex / MGI
- abnormal tooth morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal axon guidance / MGI
- no phenotypic analysis / MGI
- nervous system phenotype / MGI
- abnormal nervous system morphology / MGI
- abnormal masseter muscle morphology / MGI
- abnormal temporalis muscle morphology / MGI
- absent facial nerve / MGI
- behavior/neurological phenotype / MGI
- abnormal neuron differentiation / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, incomplete penetrance / MGI
- abnormal cochlear VIII nucleus morphology / MGI
- abnormal lower lip morphology / MGI
- abnormal rhombomere 4 morphology / MGI
- absent facial muscle / MGI
- narrow face / MGI
- facial paralysis / MGI
- facial muscle degeneration / MGI
- abnormal digastric posterior belly morphology / MGI
- abnormal buccinator muscle morphology / MGI
- abnormal depressor anguli oris muscle morphology / MGI
- abnormal zygomaticus muscle morphology / MGI
- absent levator nasolabialis muscle / MGI