- decreased prepulse inhibition / IMPC
- abnormal auditory brainstem response / IMPC
- decreased startle reflex / IMPC
- abnormal retina morphology / IMPC
- decreased exploration in new environment / IMPC
- abnormal startle reflex / IMPC
- preweaning lethality, incomplete penetrance / IMPC
- decreased locomotor activity / IMPC
C57BL/6N-Nedd4ltm1.1Ics/Ics
| Status | Available to order |
| EMMA ID | EM:16219 |
| Citation information | RRID:IMSR_EM:16219 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 | C57BL/6N-Nedd4ltm1.1Ics/Ics |
| Alternative name | Nedd4ltm1.1Ics/Ics |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Nedd4ltm1.1Ics |
| Gene/Transgene symbol | Nedd4l |
Information from provider
| Provider | Jamel Chelly |
| Provider affiliation | IGBMC |
| Genetic information | We inserted a loxP site intron 28. In intron 29, we inserted a Lox511 site, a inverted chimeric human intron-degenerated Ex29 with the mutation of interest, a inverted loxP site, a FRT flanked neomycin resistance gene cassette and a second inverted Lox511 site. The neo cassette was removed through subsequent flp-mediated recombination, leading to a conditional point-mutation allele which will change an arginine to a glutamine (c.2693G>A, p.R898Q) in exon 29 (ENSMUSE00000143555) after cre-mediated recombination. |
| Phenotypic information | Homozygous:N/AHeterozygous:N/A |
| Breeding history | 100% C57BL/6N (C57BL/6NCrl 99,22% C57BL/6NTac 0,78%) |
| References | None available |
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | ICS, Institut Clinique de la Souris, Illkirch-Graffenstaden, France |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Periventricular nodular heterotopia / Orphanet_98892
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- increased neutrophil cell number / MGI
- abnormal systemic arterial blood pressure / MGI
- hypertension / MGI
- hydronephrosis / MGI
- polydipsia / MGI
- cyanosis / MGI
- polyuria / MGI
- lung inflammation / MGI
- respiratory distress / MGI
- premature death / MGI
- abnormal pulmonary alveolus morphology / MGI
- increased circulating aldosterone level / MGI
- abnormal renal tubule morphology / MGI
- decreased urine osmolality / MGI
- no phenotypic analysis / MGI
- increased left ventricle weight / MGI
- salt-sensitive hypertension / MGI
- increased mean systemic arterial blood pressure / MGI
- decreased cardiac muscle contractility / MGI
- decreased heart rate / MGI
- respiratory system phenotype / MGI
- increased circulating potassium level / MGI
- increased circulating sodium level / MGI
- mortality/aging / MGI
- primary atelectasis / MGI
- pulmonary epithelial necrosis / MGI
- postnatal lethality, complete penetrance / MGI
- neonatal lethality, incomplete penetrance / MGI
- increased fluid intake / MGI
- decreased intestinal epithelial sodium ion transmembrane transport / MGI
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