IMPC phenotypes (allele matching)
C3HeB/FeJ-Dll1m1Mhda/Ieg
| Status | Available to order |
| EMMA ID | EM:02466 |
| International strain name | C3HeB/FeJ-Dll1m1Mhda/Ieg |
| Alternative name | Dll1_C413Y |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Dll1m1Mhda, |
| Gene/Transgene symbol | Dll1 |
Information from provider
| Provider | Johannes Beckers |
| Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
| Genetic information | A point mutation in exon 8 of the gene leads to a missense mutation from Cysteine to Tyrosine in the fourth EGF repeat of the Dll1 protein. |
| Phenotypic information | Homozygous animals show reduced viability, they are smaller, lighter and are in bad general condition. Only subtle skeletal alterations. |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
| Animals used for archiving | heterozygous C3HeB/FeJ |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Alobar holoprosencephaly / Orphanet_93925
- Autosomal dominant non-syndromic intellectual disability / Orphanet_178469
- Midline interhemispheric variant of holoprosencephaly / Orphanet_93926
- Microform holoprosencephaly / Orphanet_280200
- Septopreoptic holoprosencephaly / Orphanet_280195
- Semilobar holoprosencephaly / Orphanet_220386
- Lobar holoprosencephaly / Orphanet_93924
MGI phenotypes (allele matching)
- decreased bone mineral density / MGI
- decreased body height / MGI
- decreased body weight / MGI
- hyperactivity / MGI
- premature death / MGI
- decreased circulating triglyceride level / MGI
- increased lean body mass / MGI
- increased mean systemic arterial blood pressure / MGI
- decreased circulating cholesterol level / MGI
- decreased heart rate / MGI
- immune system phenotype / MGI
- increased systemic arterial diastolic blood pressure / MGI
- increased systemic arterial systolic blood pressure / MGI
- increased blood uric acid level / MGI
- increased basal metabolism / MGI
- decreased total body fat amount / MGI
- preweaning lethality, incomplete penetrance / MGI
Literature references
- Dll1 haploinsufficiency in adult mice leads to a complex phenotype affecting metabolic and immunological processes.;Rubio-Aliaga Isabel, Przemeck Gerhard K H, Fuchs Helmut, Gailus-Durner Valérie, Adler Thure, Hans Wolfgang, Horsch Marion, Rathkolb Birgit, Rozman Jan, Schrewe Anja, Wagner Sibylle, Hoelter Sabine M, Becker Lore, Klopstock Thomas, Wurst Wolfgang, Wolf Eckhard, Klingenspor Martin, Ivandic Boris T, Busch Dirk H, Beckers Johannes, Hrabé de Angelis Martin, ;2009;PloS one;4;e6054; 19562077