B6;CBA-Lamb2npht/H
| Status | Available to order |
| EMMA ID | EM:04407 |
| International strain name | B6;CBA-Lamb2npht/H |
| Alternative name | Nephertiti |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Lamb2npht |
| Gene/Transgene symbol | Lamb2 |
Information from provider
| Provider | Richard Cornall |
| Provider affiliation | Oxford University |
| Genetic information | Fully recessive laminin beta 2 (formerly unknown) mutation on mixed intercross background. |
| Phenotypic information | ENU mutant mouse line, develops nephrotic range proteinuria (recessive trait) at young age and has abnormal liver histology similar to that seen in Lafora body disease, but there is no associated central nervous system phenotype. |
| Breeding history | Crossed to CBA and then intercrossed for several (approx 5) generations. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
| Breeding at archiving centre | Imported males on a mixed C57BL/6 x CBA background were sperm frozen upon arrival at the archiving centre. |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Pierson syndrome / Orphanet_2670
- Synaptic congenital myasthenic syndromes / Orphanet_98915
Literature references
- Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome.;Bull Katherine R, Mason Thomas, Rimmer Andrew J, Crockford Tanya L, Silver Karlee L, Bouriez-Jones Tiphaine, Hough Tertius A, Chaudhry Shirine, Roberts Ian S D, Goodnow Christopher C, Cornall Richard J, ;2014;The Journal of pathology;233;18-26; 24293254