Phenotypes associated with this allele

• Allele Symbol: Lox^tm1Soin
• Allele Name: targeted mutation 1, Raija Soininen
• Allele ID: MGI:3610732
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lox^tm1Soin/Lox^tm1Soin	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3611287

Genotype
MGI:3611287

hm1

• Allelic Composition: Lox^tm1Soin/Lox^tm1Soin
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

perinatal lethality, complete penetrance ( J:103389 )

• at birth 4 live and 3 dead homozygous pups were found out of 27 total with all of the live born pups dying shortly after birth

cardiovascular system

abnormal pulmonary artery morphology ( J:101687 )

• at E18.5, the number of mutant pulmonary arteries was reduced by ~11%; however, this did not reach statistical significance

• at E18.5, mutant pulmonary arteries displayed irregular and highly fragmented elastic fibers and elastic lamellae

• however, no fragmentation was noted in the bronchiolar lamina propria, despite a slight decrease in elastin staining intensity

abnormal aorta elastic tissue morphology ( J:103389 )

• at E18.5 hazy and unruffled elastic lamellae were seen, the elastic laminae were fragmented, and cells on the internal elastic lamellae were abnormal and detached from the elastic lamina

abnormal aorta smooth muscle morphology ( J:103389 )

• at E18.5, the smooth muscle layer was discontinuous

aorta stenosis ( J:103389 )

• at E18.5 all homozygotes displayed increased thickness of the aortic wall and narrowing of the lumen

• narrowing of the lumen of the abdominal aorta was seen in all 4 live homozygous newborn pups

aortic aneurysm ( J:103389 )

• at E18.5 at least 4 homozygous embryos had aortic aneurysms

• 3 of the 4 live newborns had aortic aneurysms

abnormal blood flow velocity ( J:103389 )

• at E18.5, the pulsality index ((peak systolic velocity - end-diastolic velocity)/time-averaged maximum velocity) was increased for the descending aorta, umbilical artery, and intracranial arteries and the pulsality index for veins ((peak systolic velocity - velocity during atrial contraction)/time-averaged maximum velocity over the cardiac cycle) was increased in the ductus venosus

• at E18.5, the outflow and inflow velocities were decreased; however, heart rate was similar to wild-type

hemorrhage ( J:103389 )

• 2 of the 3 pups dead at birth had large hemorrhages in the upper chest

semilunar valve regurgitation ( J:103389 )

• at E18.5 in homozygotes with the highest pulsality indices in the aorta, semilunar valve regurgitation was seen

homeostasis/metabolism

cyanosis ( J:103389 )

• live born pups were cyanotic

abnormal enzyme/coenzyme activity ( J:101687 )

• lysyl oxidase activity in cultured skin fibroblasts and aortic smooth muscle cells was reduced by ~80%

behavior/neurological

abnormal suckling behavior ( J:103389 )

• live newborns did not suckle

decreased locomotor activity ( J:103389 )

• live newborns were sluggish

respiratory system

impaired branching involved in terminal bronchiole morphogenesis ( J:101687 )

• at E15.5, the number of mutant proximal airways, ie, developing bronchioles, is reduced by ~22%

abnormal bronchiole epithelium morphology ( J:101687 )

• at E18.5, the epithelial cells of mutant bronchioles appeared disorganized and reduced in number by 8%

• the thickness of the epithelium was significantly reduced

decreased lung weight ( J:101687 )

• at E18.5, the weight of mutant lungs was reduced by ~17%

pulmonary hypoplasia ( J:101687 )

• by birth, mutant lungs are hypoplastic and structurally abnormal

abnormal pulmonary acinus morphology ( J:101687 )

• at E18.5, the numbers of distal airways (i.e. acinar tubule derivatives including alveolar ducts, sacs, and primitive alveolar structures) were reduced by 21%

• at P0, distal airways appeared extremely dilated with further thickening of their walls

impaired branching involved in respiratory bronchiole morphogenesis ( J:101687 )

• at E18,5, the number of mutant proximal airways, ie, developing bronchioles, is reduced by 23%

atelectasis ( J:101687 )

• at P0, mutant lungs displayed numerous atelectatic areas

emphysema ( J:101687 )

• homozygotes displayed an emphysema-like condition with dilated distal airways

abnormal pulmonary elastic fiber morphology ( J:101687 )

• at E18.5, mutant lungs showed a significant reduction (or even absence) of staining of elastic fibers

• mutant elastic fibers appeared more disperse, esp. in the mesenchyme surrounding the distal airways, bronchioles, bronchi, and trachea, and were fragmented in pulmonary arterial walls

• in addition, individual collagen fibers were dispersed, short, and failed to form tight bundles as in wild-type lungs

dilated respiratory conducting tube ( J:101687 )

• at E18.5 and P0, mutant lungs exhibited enlarged distal and proximal airways

• at P0, distal airways and bronchioles were extremely dilated

muscle

abnormal aorta smooth muscle morphology ( J:103389 )

• at E18.5, the smooth muscle layer was discontinuous

abnormal diaphragm morphology ( J:101687 )

• at E18.5, mutant diaphragmatic muscles showed disorganization of collagen fibers, similar to those noted in lung and skin

diaphragmatic hernia ( J:101687 )

• diaphragmatic hernias were occasionally observed at E18.5 and more frequently at P0, but never prior to E18.5

• diaphragmatic rupture occurs at the collagen-rich diaphragmatic central tendon region and results in herniation of abdominal contents into the thorax

integument

abnormal cutaneous collagen fibril morphology ( J:101687 )

• collagen bundles were less well organized, and contained fewer individual fibers with an undefined precipitate-like material on their surfaces

abnormal cutaneous elastic fiber morphology ( J:101687 )

• at E18.5, mutant skin displayed rarer, shorter, and morphologically abnormal elastic fibers, with very little, if any, amorphous elastin within microfibrils