Phenotypes associated with this allele

• Allele Symbol: Mmp14^tm1Ski
• Allele Name: targeted mutation 1, Motoharu Seiki
• Allele ID: MGI:3687379
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mmp14^tm1Ski/Mmp14^tm1Ski	B6.Cg-Mmp14^tm1Ski	MGI:3688402

Genotype
MGI:3688402

hm1

• Allelic Composition: Mmp14^tm1Ski/Mmp14^tm1Ski
• Genetic Background: B6.Cg-Mmp14^tm1Ski

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

mortality/aging

premature death ( J:113113 )

postnatal lethality ( J:165029 )

• mutant mice die between 10 and 15 days of age

muscle

abnormal skeletal muscle fiber morphology ( J:113113 , J:165029 )

• at 4 weeks of age, myofibers are heterogeneous in size, with some smaller, less developed, and slightly angulated fibers compared to wild-type (J:113113)

• basement membrane appears slightly thickened (J:113113)

• myofibers appear fragile and some appear to be undergoing regeneration at 4 weeks of age (J:113113)

• muscle show an accumulation of abnormally processed laminin-2/4 (J:113113)

• mutants exhibit musculoskeletal defects at the time of death (J:165029)

increased skeletal muscle fiber size ( J:113113 )

• some myofibers show mild hypertrophy

centrally nucleated skeletal muscle fibers ( J:113113 )

• nuclei are centrally located as opposed to the peripheral location in mature wild-type fibers

skeletal muscle interstitial fibrosis ( J:113113 )

• there is apparent peripheral fibrosis with slight accumulation of insterstitial matrix deposition compared to wild-type

skeleton

abnormal joint morphology ( J:113113 )

• mutants present with joint fibrosis several weeks post-natal

abnormal skeleton physiology ( J:113113 )

• mutants show decreased viability post-natal and present with severe bone deformation

renal/urinary system

decreased kidney cell proliferation ( J:165029 )

• mutant kidneys proliferate about half as much as wild-type kidneys, as shown by Ki67 staining

• however, no difference in apoptosis is observed

abnormal kidney morphology ( J:165029 )

• at P10, mutant kidneys appear dysmorphic and dysgenic and the parenchyma is less dense than that of wild-type kidneys

• deposition of collagen IV, laminins, perlecan, and nidogen is increased in the basement membrane of mutant kidneys

decreased renal glomerulus number ( J:165029 )

• at P10, a decreased number of glomeruli is observed

kidney cortex hypoplasia ( J:165029 )

• at P10

abnormal kidney corticomedullary boundary morphology ( J:165029 )

• at P10, the cortico-medullary junction is poorly delineated

abnormal kidney development ( J:165029 )

• mutant kidneys exhibit a severe proliferative and a moderate branching defect

abnormal kidney papilla morphology ( J:165029 )

• at P10, loosely packed, dilated and dysmorphic tubules are seen in the papilla

small kidney ( J:165029 )

• mutant kidneys are smaller than wild-type from E12.5 till birth

• at death, mutant kidneys are smaller than wild-type, but the size is proportional to the decreased body size

impaired branching involved in ureteric bud morphogenesis ( J:165029 )

• at E13.5 and E17.5, mutant kidneys show a moderate defect in ureteric bud (UB) branching

• in vitro, cultured E12.5 kidneys display a significant decrease in UB branches

• the branching morphogenesis defect is independent of MMP-2 and MMP-9 activity

growth/size/body

decreased body size ( J:165029 )

• mutants are significantly smaller than wild-type mice at the time of death

cellular

decreased kidney cell proliferation ( J:165029 )

• mutant kidneys proliferate about half as much as wild-type kidneys, as shown by Ki67 staining

• however, no difference in apoptosis is observed

abnormal basement membrane morphology ( J:165029 )

• in mutant kidneys, all extracellular matrix components of the BM (collagen IV, laminins 111, 332, 511/521, entactin/nidogen and sulfated proteoglycans) are increased in the renal tubules and/or glomeruli