Mouse Genome Informatics
hm1
    Cybbtm1Din/Cybbtm1Din
B6.129S-Cybbtm1Din
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
N
• mice exhibit a normal local Shwartman response namely thrombohemorrhagic vasculitis (J:113463)
• increased infiltration of leukocytes into gelatin sponge implanted along with QR-32 fibrosarcoma cells (J:110181)
• zymosan injection into the peritoneal cavity results in an exaggerated influx of polymorphonuclear cells with declining numbers over the next 96 hours (J:146231)
• macrophage numbers also become elevated and remain elevated for 96 hours (J:146231)

nervous system
• completely abrogated in hippocampal slices (J:111410)
• significantly decreased (J:111410)
• synaptic fatigue is normal (J:111410)

behavior/neurological
• small but significant deficits in early training trials in water maze tests (J:111410)
• spatial learning impairments (J:111410)
• very slightly impaired motor coordination in a rotarod test (J:111410)
• less rearing in open field tests (J:111410)

tumorigenesis
• decreased metastasis of QR-32 fibrosarcoma cells implanted with a gelatin sponge to induce inflammation (J:110181)
• greatly decreased metastasis of B16BL6 melanoma cells after implantation although cell growth was similar to that seen in controls (J:110181)
• reduced growth of QR-32 fibrosarcoma cells implanted with a gelatin sponge to induce inflammation (J:110181)

Mouse Models of Human Disease
OMIM IDRef(s)
Granulomatous Disease, Chronic, X-Linked; CGD 306400 J:146231


Mouse Genome Informatics
hm2
    Cybbtm1Din/Cybbtm1Din
B6.129S-Cybbtm1Din/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
N
• wounded colonic epithelium exhibit normal phagocytic reactive oxygen species generation (J:194294)


Mouse Genome Informatics
hm3
    Cybbtm1Din/Cybbtm1Din
involves: 129S/SvEv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• body weight is slightly but significantly reduced at 10-12 weeks of age (J:115614)

digestive/alimentary system
N
• susceptibility to indomethacin-induced changes in mucosa permeability is significantly attenuated relative to wild-type controls or Rag2-deficient mice (J:64232)
• when given 10-20 mg/kg indomethacin, mice have markedly less damage to integrity of the small bowel mucosa than controls or Rag2-null mice which develop small nonhemorrhagic lesions in the jejunum (J:64232)
• when given 10-20 mg/kg indomethacin, mice have markedly less damage to integrity of the gastric mucosa than controls or Rag2-null mice which develop extensive hemorrhagic lesions of the gastric mucosa (J:64232)

immune system
N
• mice develop minimal inflammation in response to indomethacin treatement compared to wild-type controls or Rag2-null animals (J:64232)

cardiovascular system
• medial area of the aorta is unaffected by angiotensin II infusion whereas it increases in controls (J:115614)
• baseline blood pressure is significantly reduced at 10-12 weeks of age (J:115614)


Mouse Genome Informatics
cx4
    Cybbtm1Din/Y
Tg(SOD1*G93A)dl1Gur/0

B6.Cg-Cybbtm1Din Tg(SOD1*G93A)dl1Gur
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• life span improved relative to mice only carrying Tg(SOD1*G93A)dl1Gur (J:111782)

behavior/neurological
• used as a measure of paralysis (J:111782)
• improved relative to mice only carrying Tg(SOD1*G93A)dl1Gur (J:111782)
• reached end stage paralysis later than mice only carrying Tg(SOD1*G93A)dl1Gur (J:111782)

nervous system
• improved relative to mice only carrying Tg(SOD1*G93A)dl1Gur (J:111782)
• 50% more anterior horn motor neurons in the anterior horn of the spinal cord than in mice only carrying Tg(SOD1*G93A)dl1Gur (J:111782)
• more myelinated axons in the 5th lumbar anterior roots than in mice only carrying Tg(SOD1*G93A)dl1Gur (J:111782)
• more innervated end plates than in mice only carrying Tg(SOD1*G93A)dl1Gur (J:111782)

muscle
• in the fibularis and peroneus longus (J:111782)

Mouse Models of Human Disease
OMIM IDRef(s)
Amyotrophic Lateral Sclerosis 1; ALS1 105400 J:111782


Mouse Genome Informatics
ot5
    Cybbtm1Din/Y
B6.129S-Cybbtm1Din
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size

nervous system
• chronic intermittent hypoxia fails to evoke sensory long-term facilitation in the carotid body (J:147954)

renal/urinary system
N
• anesthetized males exhibit no significant differences in baseline glomerular filtration rate (GFR), urine flow, sodium excretion, and potassium excretion relative to wild-type controls (J:101981)
• proportionately greater decrease in renal blood flow after L-NAME administration than in controls (J:138704)
• anesthetized males exhibit significantly higher baseline renal blood flow (RBF) relative to wild-type controls (4.3+/-0.4 versus 2.5+/-0.2 mL/min per gram, respectively) (J:101981)
• in response to i.v. infusion of Ang II, anesthetized males show a smaller % of reduction in RBF relative to wild-type controls (-8% versus -33%, respectively) (J:101981)
• anesthetized males exhibit significantly lower baseline renal vascular resistance (RVR) relative to wild-type controls (16+/-1.3 versus 29+/-2.3 mm Hg/mL/min per gram, respectively) (J:101981)
• in response to i.v. infusion of Ang II, anesthetized males show a smaller % of increase in RVR relative to wild-type controls (+73% versus +173%, respectively) (J:101981)
• after L-NAME administration relative to controls (J:138704)
• conscious males exhibit a higher excretion rate of creatinine relative to wild-type controls (1.4+/-0.4 versus 1.0+/-0.2 mg/day per gram, respectively) (J:101981)
• after L-NAME administration relative to controls (J:138704)
• conscious males exhibit a higher basal level of urinary sodium excretion relative to wild-type controls (807+/-69 versus 545+/-94 umol/day per gram, respectively) (J:101981)
• however, the basal level of 24-hour urine flow is normal in conscious males (J:101981)
• conscious males exhibit significantly higher urinary excretion of nitrate/nitrite relative to wild-type controls (23.7+/-3.0 versus 13.3+/-2.5 umol/day per gram, respectively) (J:101981)
• in response to i.v. infusion of Ang II, anesthetized males show a 43% increase in GFR, unlike wild-type controls where GFR is not significantly altered (J:101981)
• reduced urine volume after L-NAME administration relative to controls (J:138704)

cardiovascular system
N
• anesthetized males exhibit no significant differences in baseline mean arterial pressure relative to wild-type controls (J:101981)
• conscious males show no significant differences in mean systolic arterial pressure relative to wild-type controls (J:101981)
• i.v. administration of Ang II causes similar increments in mean arterial pressure in both genotypes (J:101981)
• proportionately greater decrease in renal blood flow after L-NAME administration than in controls (J:138704)
• anesthetized males exhibit significantly higher baseline renal blood flow (RBF) relative to wild-type controls (4.3+/-0.4 versus 2.5+/-0.2 mL/min per gram, respectively) (J:101981)
• in response to i.v. infusion of Ang II, anesthetized males show a smaller % of reduction in RBF relative to wild-type controls (-8% versus -33%, respectively) (J:101981)
• anesthetized males exhibit significantly lower baseline renal vascular resistance (RVR) relative to wild-type controls (16+/-1.3 versus 29+/-2.3 mm Hg/mL/min per gram, respectively) (J:101981)
• in response to i.v. infusion of Ang II, anesthetized males show a smaller % of increase in RVR relative to wild-type controls (+73% versus +173%, respectively) (J:101981)
• after L-NAME administration relative to controls (J:138704)
• right ventricular systolic pressure is not increased by intermittent hypoxic stress as it is in controls (J:135786)

homeostasis/metabolism
• conscious males exhibit a higher excretion rate of creatinine relative to wild-type controls (1.4+/-0.4 versus 1.0+/-0.2 mg/day per gram, respectively) (J:101981)
• conscious males exhibit a significantly higher 24-hour urinary excretion of NO metabolites, nitrate/nitrite, relative to wild-type controls, indicating an increase in NO bioavailability (J:101981)
• however, no significant changes in urinary excretion of 8-isoprostane (an indirect marker for oxidative stress) are observed (J:101981)
• after L-NAME administration relative to controls (J:138704)
• conscious males exhibit a higher basal level of urinary sodium excretion relative to wild-type controls (807+/-69 versus 545+/-94 umol/day per gram, respectively) (J:101981)
• however, the basal level of 24-hour urine flow is normal in conscious males (J:101981)
• conscious males exhibit significantly higher urinary excretion of nitrate/nitrite relative to wild-type controls (23.7+/-3.0 versus 13.3+/-2.5 umol/day per gram, respectively) (J:101981)

muscle


Mouse Genome Informatics
ot6
    Cybbtm1Din/Y
involves: 129S/SvEv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• body weight is slightly but significantly reduced at 10-12 weeks of age (J:115614)

immune system
• neutrophils lacked respiratory burst activity (J:22868)
• macrophages lacked respiratory burst activity (J:22868)
• dysregulated inflammatory response; increased numbers of peritoneal exudate neutrophils in chemical peritonitis induced by thioglycollate (J:22868)
• increased frequency of spontaneously occurring infections (J:22868)
• increased susceptibility to S. aureus infection and A. fumigatus infection (J:22868)

cardiovascular system
• medial area of the aorta is unaffected by angiotensin II infusion whereas it increases in controls (J:115614)
• Angiotensin II infusion causes a 5% cardiac mass change as compared to a 20% change in controls (J:115652)
• baseline blood pressure is significantly reduced at 10-12 weeks of age (J:115614)
• lower baseline systolic pressure (J:115652)

hematopoietic system
• neutrophils lacked respiratory burst activity (J:22868)
• macrophages lacked respiratory burst activity (J:22868)

Mouse Models of Human Disease
OMIM IDRef(s)
Granulomatous Disease, Chronic, X-Linked; CGD 306400 J:22868