| DNASE1L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | DNASE1L2 , DNAS1L2, deoxyribonuclease I-like 2, deoxyribonuclease 1 like 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 602622 MGI: 1913955 HomoloGene: 74391 GeneCards: DNASE1L2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Deoxyribonuclease-1-like 2 is an enzyme that in humans is encoded by the DNASE1L2 gene. [5] [6] [7]
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Normal |
| Fertility | Normal |
| Body weight | Abnormal [8] |
| Anxiety | Normal |
| Neurological assessment | Normal |
| Grip strength | Abnormal [9] |
| Hot plate | Normal |
| Dysmorphology | Abnormal [10] |
| Indirect calorimetry | Abnormal [11] |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Abnormal [12] |
| Radiography | Abnormal [13] |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Abnormal [14] |
| Haematology | Abnormal [15] |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Eye Histopathology | Normal |
| Salmonella infection | Normal [16] |
| Citrobacter infection | Normal [17] |
| All tests and analysis from [18] [19] |
Model organisms have been used in the study of DNASE1L2 function. A conditional knockout mouse line, called Dnase1l2tm1(KOMP)Wtsi [20] [21] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists. [22] [23] [24]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. [18] [25] Twenty three tests were carried out on mutant mice and eight significant abnormalities were observed. [18] Homozygous mutant animals had a decreased body weight, grip strength and bone mineral content; a kinked tail, abnormal indirect calorimetry and femur/tibia morphology. Females also had an increased blood urea nitrogen level while males had a decreased leukocyte cell number. [18]
Lamin B2 is a protein that in humans is encoded by the LMNB2 gene. It is the second of two type B nuclear lamins, and it is associated with laminopathies.
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Kaptin is a protein that in humans is encoded by the KPTN gene.
Cytochrome b561 is a protein that in humans is encoded by the CYB561 gene.
Rho-related BTB domain-containing protein 3 is a protein that in humans is encoded by the RHOBTB3 gene.
STAGA complex 65 subunit gamma is a protein that in humans is encoded by the SUPT7L gene.
RING finger protein 10 is a protein that in humans is encoded by the RNF10 gene.
SET and MYND domain-containing protein 4 is a protein that in humans is encoded by the SMYD4 gene.
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Phosphoribosyl pyrophosphate synthetase-associated protein 2 is a protein that in humans is encoded by the PRPSAP2 gene.
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WD repeat domain 47 is a protein that in humans is encoded by the WDR47 gene.
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caprin family member 2, also known as CAPRIN2, is a human gene.
tripartite motif containing 45, also known as TRIM45, is a human gene.
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NOP2/Sun domain family, member 2 is a protein that in humans is encoded by the NSUN2 gene. Alternatively spliced transcript variants encoding different isoforms have been noted for the gene.
