MGI phenotypes (allele matching)
B6.129S2-Hoxb1tm1.1Mist/Cnrm
| Status | Available to order |
| EMMA ID | EM:04421 |
| 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, wild-type C57BL/6J |
| 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