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
IMPC phenotypes (allele matching)
IMPC phenotypes (gene matching)
- increased monocyte cell number / IMPC
- abnormal whole-body plethysmography / IMPC
- decreased tidal volume / IMPC
- abnormal behavior / IMPC
- increased blood urea nitrogen level / IMPC
- decreased body weight / IMPC
- increased hemoglobin content / IMPC
- decreased circulating calcium level / IMPC
- decreased body temperature / IMPC
- decreased circulating cholesterol level / IMPC
- thrombocytopenia / IMPC
- decreased circulating triglyceride level / IMPC
- abnormal anxiety-related response / IMPC
- decreased mean platelet volume / IMPC
- decreased circulating glucose level / IMPC
- decreased vertical activity / IMPC
- increased leukocyte cell number / IMPC
- decreased circulating potassium level / IMPC
- hyperactivity / IMPC
- decreased defecation amount / IMPC
- decreased circulating sodium level / IMPC
- increased lymphocyte cell number / IMPC
- increased grip strength / IMPC
- abnormal righting response / IMPC
- decreased circulating chloride level / IMPC
- increased granulocyte number / IMPC
- abnormal eye electrophysiology / IMPC
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
MGI phenotypes (gene matching)
- increased bone mineral density / MGI
- decreased bone mineral density / MGI
- abnormal vertebrae morphology / MGI
- abnormal heart morphology / MGI
- short tail / MGI
- abnormal myogenesis / MGI
- abnormal brain development / MGI
- fused dorsal root ganglion / MGI
- abnormal spinal nerve morphology / MGI
- decreased body height / MGI
- decreased body length / MGI
- decreased body weight / MGI
- hyperactivity / MGI
- hypoactivity / MGI
- no spontaneous movement / MGI
- abnormal blood vessel morphology / MGI
- abnormal somite development / MGI
- incomplete somite formation / MGI
- abnormal somite shape / MGI
- decreased IgA level / MGI
- hemorrhage / MGI
- perinatal lethality / MGI
- premature death / MGI
- abnormal muscle morphology / MGI
- abnormal axial skeleton morphology / MGI
- abnormal neural tube morphology / MGI
- no abnormal phenotype detected / MGI
- decreased circulating triglyceride level / MGI
- abnormal somatic nervous system morphology / MGI
- situs inversus / MGI
- abnormal notochord morphology / MGI
- nervous system phenotype / MGI
- abnormal defecation / MGI
- abnormal pancreas development / MGI
- increased lean body mass / MGI
- decreased lean body mass / MGI
- abnormal primitive node morphology / MGI
- caudal body truncation / MGI
- absent embryonic cilia / MGI
- abnormal direction of embryo turning / MGI
- abnormal direction of heart looping / MGI
- decreased lumbar vertebrae number / MGI
- decreased skeletal muscle mass / MGI
- increased mean systemic arterial blood pressure / MGI
- decreased B-1 B cell number / MGI
- decreased neuronal precursor cell number / MGI
- increased B cell number / MGI
- decreased circulating cholesterol level / MGI
- increased motor neuron number / MGI
- decreased heart rate / MGI
- muscle phenotype / MGI
- embryo phenotype / MGI
- immune system phenotype / MGI
- decreased circulating total protein level / MGI
- abnormal enzyme/coenzyme activity / MGI
- artery stenosis / MGI
- increased systemic arterial diastolic blood pressure / MGI
- increased systemic arterial systolic blood pressure / MGI
- abnormal paraxial mesoderm morphology / MGI
- decreased CD4-positive, alpha beta T cell number / MGI
- increased CD8-positive, alpha-beta T cell number / MGI
- decreased CD8-positive, alpha-beta T cell number / MGI
- decreased IgG1 level / MGI
- decreased IgG2b level / MGI
- decreased IgG3 level / MGI
- increased blood uric acid level / MGI
- decreased blood uric acid level / MGI
- increased neuron number / MGI
- increased basal metabolism / MGI
- abnormal neuron differentiation / MGI
- decreased total body fat amount / MGI
- abnormal bone mineral density / MGI
- increased susceptibility to weight loss / MGI
- aorta stenosis / MGI
- abnormal Q wave / MGI
- perinatal lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- preweaning lethality, incomplete penetrance / MGI
- decreased food intake / MGI
- enlarged floor plate / MGI
- abnormal somite border morphology / MGI
- decreased basal metabolism / 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
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