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Phenotypes Associated with This Genotype
Genotype
MGI:2657020
Allelic
Composition
Loxtm1Ikh/Loxtm1Ikh
Genetic
Background
involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Loxtm1Ikh mutation (0 available); any Lox mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Thoracic aorta abnormalities in Loxtm1Ikh/Loxtm1Ikh mice

mortality/aging
• homozygotes die shortly after delivery following birth trauma, cardiovascular events, and/or diaphragmatic rupture (J:82926)
• homozygotes die shortly after delivery following birth trauma, cardiovascular events, and/or diaphragmatic rupture (J:82926)

cardiovascular system
• discontinuity of collagen in the aortic lamellae and impaired continuity of smooth muscle cells is observed (J:82926)
• aortic rupture occurs predominantly in the perinatal period (J:82926)
• discontinuity of collagen in the aortic lamellae and impaired continuity of smooth muscle cells is observed (J:82926)
• aortic rupture occurs predominantly in the perinatal period (J:82926)
• the mutant descending thoracic aorta displays impaired continuity of smooth muscle cells (J:82926)
• the mutant descending thoracic aorta displays impaired continuity of smooth muscle cells (J:82926)
• aorta wall thickness is variable and often significantly reduced (J:82926)
• aorta wall thickness is variable and often significantly reduced (J:82926)
• the mutant descending thoracic aorta is always significantly tortuous with maximal displacement to the right and left, denoting aortic lengthening (J:82926)
• the mutant descending thoracic aorta is always significantly tortuous with maximal displacement to the right and left, denoting aortic lengthening (J:82926)
• soon after parturition, homozygotes display ruptured aortic aneurysms (J:82926)
• soon after parturition, homozygotes display ruptured aortic aneurysms (J:82926)
• newborn homozygotes exhibit a fragmented, disordered elastic fiber architecture around pulmonary vessels and conducting airways and in thoracic aortae (J:82926)
• newborn homozygotes exhibit a fragmented, disordered elastic fiber architecture around pulmonary vessels and conducting airways and in thoracic aortae (J:82926)
• as early as E14.5, homozygotes display progressive fragmentation and discontinuity of the internal elastic lamina with fragmented, aberrant lamellae (J:82926)
• as early as E14.5, homozygotes display progressive fragmentation and discontinuity of the internal elastic lamina with fragmented, aberrant lamellae (J:82926)
• homozygotes exhibit a ~60% reduction of elastin cross-links in the aorta and lungs; immature collagen cross-links are also reduced albeit to a lesser extent (~40%) (J:82926)
• homozygotes exhibit a ~60% reduction of elastin cross-links in the aorta and lungs; immature collagen cross-links are also reduced albeit to a lesser extent (~40%) (J:82926)
• most homozygotes display hemothorax (J:82926)
• most homozygotes display hemothorax (J:82926)
• most homozygotes display hemoperitoneum (J:82926)
• most homozygotes display hemoperitoneum (J:82926)

respiratory system
• most homozygotes display hemothorax (J:82926)
• most homozygotes display hemothorax (J:82926)

muscle
• the mutant descending thoracic aorta displays impaired continuity of smooth muscle cells (J:82926)
• the mutant descending thoracic aorta displays impaired continuity of smooth muscle cells (J:82926)
• homozygotes often exhibit either unilateral or bilateral diaphragmatic rupture (J:82926)
• rupture occasionally occurs during the last days of gestation but most frequently at birth upon breathing initiation (J:82926)
• homozygotes often exhibit either unilateral or bilateral diaphragmatic rupture (J:82926)
• rupture occasionally occurs during the last days of gestation but most frequently at birth upon breathing initiation (J:82926)
• diaphragmatic rupture results in herniation of abdominal contents into the thorax; the liver and stomach displace the heart from the mid-chest and compress the lungs (J:82926)
• diaphragmatic rupture results in herniation of abdominal contents into the thorax; the liver and stomach displace the heart from the mid-chest and compress the lungs (J:82926)
• homozygotes display compromised tensile strength in the collagen-rich central tendon of the diaphragm; only fragments of the central tendon are observed (J:82926)
• homozygotes display compromised tensile strength in the collagen-rich central tendon of the diaphragm; only fragments of the central tendon are observed (J:82926)

integument
• upon dissection, mutant skin tears easily (J:82926)
• upon dissection, mutant skin tears easily (J:82926)

Mouse Models of Human Disease
OMIM ID Ref(s)
Menkes Disease 309400 J:82926


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory