About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Lamb2em1Jhm
endonuclease-mediated mutation 1, Jeffrey H Miner
MGI:6378616
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Lamb2em1Jhm/Lamb2em1Jhm involves: C57BL/6J * CBA/J MGI:6378620
cx2
 		Col4a3tm1Jhm/Col4a3tm1Jhm
Lamb2em1Jhm/Lamb2+ 		involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J MGI:6378621
cx3
 		Col4a3tm1Jhm/Col4a3tm1Jhm
Lamb2em1Jhm/Lamb2em1Jhm 		involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J MGI:6378622
cx4
 		Col4a5tm1Yseg/Col4a5+
Lamb2em1Jhm/Lamb2+ 		involves: 129X1/SvJ * C57BL/6J * CBA/J MGI:6378623


Genotype
MGI:6378620
hm1
Allelic
Composition		 Lamb2em1Jhm/Lamb2em1Jhm
Genetic
Background		 involves: C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lamb2em1Jhm mutation (0 available); any Lamb2 mutation (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
homeostasis/metabolism phenotype ( J:280129 )
N
• mice exhibit regular urinalysis over 12-13 months

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
NOT Pierson syndrome DOID:0060852 OMIM:609049
 J:280129




Genotype
MGI:6378621
cx2
Allelic
Composition		 Col4a3tm1Jhm/Col4a3tm1Jhm
Lamb2em1Jhm/Lamb2+
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a3tm1Jhm mutation (1 available); any Col4a3 mutation (60 available)
Lamb2em1Jhm mutation (0 available); any Lamb2 mutation (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:280129 )
• mice show a reduction in survival compared to single Col4a3 homozygotes, with mice starting to die after 4 weeks of age and none surviving past 10 weeks

renal/urinary system
albuminuria ( J:280129 )
• increase in the urinary albumin-to-creatine ratio (ACR) compared to single Col4a3 homozygotes as early as P7-P11
• although ACR remains high through 7 weeks, it decreases as blood urea nitrogen (BUN) levels increase at 5-7 weeks
abnormal kidney morphology ( J:280129 )
• kidneys appear normal at P7-P11 but show histopathologic features at 6-8 weeks of age including glomerulosclerosis, crescents, and tubular protein casts
podocyte foot process effacement ( J:280129 )
• mice show a trend of increased foot process effacement at P7-P11 compared to single Col4a3 homozygotes and foot process effacement is significantly worse by 5 weeks of age
abnormal renal glomerulus basement membrane morphology ( J:280129 )
• glomerular basement membrane splitting and bulging is seen at early stages, which eventually worsen to become thick
glomerulosclerosis ( J:280129 )
• mice show acceleration of glomerular lesions compared to single Col4a3 homozygotes
glomerular crescent ( J:280129 )
• kidneys show glomerular crescents at 6-8 weeks of age

homeostasis/metabolism
increased blood urea nitrogen level ( J:280129 )
• increase in BUN levels at 5-7 weeks of age
albuminuria ( J:280129 )
• increase in the urinary albumin-to-creatine ratio (ACR) compared to single Col4a3 homozygotes as early as P7-P11
• although ACR remains high through 7 weeks, it decreases as blood urea nitrogen (BUN) levels increase at 5-7 weeks




Genotype
MGI:6378622
cx3
Allelic
Composition		 Col4a3tm1Jhm/Col4a3tm1Jhm
Lamb2em1Jhm/Lamb2em1Jhm
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a3tm1Jhm mutation (1 available); any Col4a3 mutation (60 available)
Lamb2em1Jhm mutation (0 available); any Lamb2 mutation (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
podocyte foot process effacement ( J:280129 )
• significant foot process effacement is seen at P7-P11
abnormal renal glomerulus basement membrane morphology ( J:280129 )
• abnormal glomerular basement membrane ultrastructure
glomerulosclerosis ( J:280129 )
• kidneys show histopathologic features at P7, indicating a worsened Alport phenotype




Genotype
MGI:6378623
cx4
Allelic
Composition		 Col4a5tm1Yseg/Col4a5+
Lamb2em1Jhm/Lamb2+
Genetic
Background		 involves: 129X1/SvJ * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a5tm1Yseg mutation (1 available); any Col4a5 mutation (13 available)
Lamb2em1Jhm mutation (0 available); any Lamb2 mutation (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
albuminuria ( J:280129 )
• mice show increased albuminuria compared to single Col4a5 heterozygotes between 4-6 weeks of age
• the urinary albumin-to-creatine ratio (ACR) is not different at 8 weeks but is higher than in single Col4a5 heterozygotes at 12 weeks, indicating accelerated disease progression
abnormal kidney morphology ( J:280129 )
• mice show tubular protein casts as early as 8 weeks of age
glomerulosclerosis ( J:280129 )
• mice show enhanced glomerulosclerosis than in single Col4a5 heterozygotes at 8 weeks of age

homeostasis/metabolism
albuminuria ( J:280129 )
• mice show increased albuminuria compared to single Col4a5 heterozygotes between 4-6 weeks of age
• the urinary albumin-to-creatine ratio (ACR) is not different at 8 weeks but is higher than in single Col4a5 heterozygotes at 12 weeks, indicating accelerated disease progression




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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
08/02/2024
MGI 6.24 		The Jackson Laboratory