All Phenotypes Lama5<tm2Jhm> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Lama5^tm1Jhm/Lama5^tm2Jhm Tg(SFTPC-rtTA)5Jaw/? Tg(tetO-cre)1Jaw/?	involves: 129S1/Sv * 129X1/SvJ	MGI:3613082
cn2	Lama5^tm2Jhm/Lama5^tm2Jhm Tg(ACTA1-cre)1Mll/0	involves: 129S1/Sv * 129X1/SvJ	MGI:3822742
cn3	Lama4^tm1Ktry/Lama4^tm1Ktry Lama5^tm2Jhm/Lama5^tm2Jhm Tg(ACTA1-cre)1Mll/0	involves: 129S1/Sv * 129X1/SvJ	MGI:3822744
cn4	Lama5^tm2Jhm/Lama5^tm1Jhm Tg(NPHS2-cre)295Lbh/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL	MGI:5432560
cn5	Lama5^tm2Jhm/Lama5^tm2Jhm Tg(NPHS2-cre)295Lbh/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL	MGI:5432561

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

mortality/aging

neonatal lethality, complete penetrance ( J:104565 )

• animals exposed to doxycycline from E6.5 die within a few hours of birth from respiratory failure

respiratory system

abnormal lung vasculature morphology ( J:104565 )

• severely reduced density of lung capillary network in newborn animals exposed to doxycycline from E6.5, associated with reduced VEGF expression in mutant lungs

abnormal lung development ( J:104565 )

• areas of thin lung mesenchyme and upregulation of integrin alpha 3 (Lama5 receptor) in newborn animals exposed to doxycycline from E6.5

thin lung-associated mesenchyme ( J:104565 )

• areas of thin lung mesenchyme in newborn animals exposed to doxycycline from E6.5

pulmonary hypoplasia ( J:104565 )

• total lung parenchyma is reduced

abnormal pulmonary alveolus morphology ( J:104565 )

• airspaces of newborn animals exposed to doxycycline from E6.5 are filled with amorphous proteinaceous material and cellular debris not seen in controls

abnormal pulmonary alveolus epithelium morphology ( J:104565 )

• delayed or impaired differentiation of distal alveolar epithelium in newborn animals exposed to doxycycline from E6.5

• mutant peripheral airspaces are often lined with cuboidal epithelium

absent type I pneumocytes ( J:104565 )

• virtual absence of alveolar type I cells in newborn animals exposed to doxycycline from E6.5

decreased type II pneumocyte number ( J:104565 )

• significant reduction of alveolar type II cells in newborn animals exposed to doxycycline from E6.5

overexpanded pulmonary alveolus ( J:104565 )

• enlarged distal airspaces in newborn animals exposed to doxycycline from E6.5

respiratory distress ( J:104565 )

• newborn animals exposed to doxycycline from E6.5 display labored breathing

respiratory failure ( J:104565 )

homeostasis/metabolism

cyanosis ( J:104565 )

• newborn animals exposed to doxycycline from E6.5 display cyanosis

cardiovascular system

abnormal lung vasculature morphology ( J:104565 )

• severely reduced density of lung capillary network in newborn animals exposed to doxycycline from E6.5, associated with reduced VEGF expression in mutant lungs

cellular

increased apoptosis ( J:104565 )

• in lungs of newborn animals exposed to doxycycline starting at E6.5

decreased cell proliferation ( J:104565 )

• in lungs of newborn animals exposed to doxycycline from E6.5

Allelic Composition	Lama5^tm2Jhm/Lama5^tm2Jhm Tg(ACTA1-cre)1Mll/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lama5^tm2Jhm mutation (0 available); any Lama5 mutation (153 available)
Tg(ACTA1-cre)1Mll mutation (0 available)

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

nervous system

abnormal neuromuscular synapse morphology ( J:142595 )

• topological maturation of postsynaptic membrane at the neuromuscular junction (NMJ) is delayed by more than a week in the sternomastoid muscle compared to in wild-type mice

• both pre- and postsynaptic NMJ differentiation is delayed compared to in wild-type mice

Allelic Composition	Lama4^tm1Ktry/Lama4^tm1Ktry Lama5^tm2Jhm/Lama5^tm2Jhm Tg(ACTA1-cre)1Mll/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lama4^tm1Ktry mutation (1 available); any Lama4 mutation (114 available)
Lama5^tm2Jhm mutation (0 available); any Lama5 mutation (153 available)
Tg(ACTA1-cre)1Mll mutation (0 available)

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

mortality/aging

premature death ( J:142595 )

• mice die at around 3 months of age

nervous system

abnormal innervation pattern to muscle ( J:142595 )

• nuscle innervation is incomplete unlike in wild-type mice

abnormal neuromuscular synapse morphology ( J:142595 )

• both pre- and postsynaptic neuromuscular junction (NMJ) differentiation is delayed compared to in wild-type mice

• Schwann cell distribution is abnormal secondary to presynaptic defects in the NMJs

behavior/neurological

weakness ( J:142595 )

• mice are weaker than either single homozygous mice

growth/size/body

decreased body size ( J:142595 )

• mice are smaller than either single homozygous mice

Allelic Composition	Lama5^tm2Jhm/Lama5^tm1Jhm Tg(NPHS2-cre)295Lbh/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lama5^tm1Jhm mutation (0 available); any Lama5 mutation (153 available)
Lama5^tm2Jhm mutation (0 available); any Lama5 mutation (153 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)

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

renal/urinary system

increased urine protein level ( J:185850 )

• animals show mild proteinuria early in life (3 weeks), and progress to the nephrotic range of disease

hematuria ( J:185850 )

• observed with age

tubulointerstitial nephritis ( J:185850 )

abnormal kidney morphology ( J:185850 )

• yellowing of the kidneys is observed with age

podocyte foot process effacement ( J:185850 )

abnormal renal glomerulus basement membrane morphology ( J:185850 )

• increased thickness, a moth-eated appearance and irregular contours with frequent subepithelial outpocketings are observed at late disease stages

increased renal glomerulus basement membrane thickness ( J:185850 )

expanded mesangial matrix ( J:185850 )

• observed at late stages of disease

glomerulosclerosis ( J:185850 )

• observed at late stages of disease

homeostasis/metabolism

increased circulating cholesterol level ( J:185850 )

• observed with age

decreased circulating serum albumin level ( J:185850 )

• observed with age

edema ( J:185850 )

• mice become edematous with age

increased urine protein level ( J:185850 )

• animals show mild proteinuria early in life (3 weeks), and progress to the nephrotic range of disease

hematuria ( J:185850 )

• observed with age

immune system

tubulointerstitial nephritis ( J:185850 )

Allelic Composition	Lama5^tm2Jhm/Lama5^tm2Jhm Tg(NPHS2-cre)295Lbh/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lama5^tm2Jhm mutation (0 available); any Lama5 mutation (153 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:185850 )

• some mice live only a few weeks, but others show little sign of disease (nephrotic syndrome) at 8 months

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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