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Phenotypes Associated with This Genotype
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

• homozygotes die shortly after delivery following birth trauma, cardiovascular events, and/or diaphragmatic rupture

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

respiratory system
• most homozygotes display hemothorax

• the mutant descending thoracic aorta displays impaired continuity of smooth muscle cells
• homozygotes often exhibit either unilateral or bilateral diaphragmatic rupture
• rupture occasionally occurs during the last days of gestation but most frequently at birth upon breathing initiation
• 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
• homozygotes display compromised tensile strength in the collagen-rich central tendon of the diaphragm; only fragments of the central tendon are observed

• upon dissection, mutant skin tears easily

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Menkes disease DOID:1838 OMIM:309400

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
MGI 6.12
The Jackson Laboratory