All Phenotypes Col4a5<tm1Yseg> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Col4a5^tm1Yseg/Col4a5⁺	B6.Cg-Col4a5^tm1Yseg	MGI:3610502
cx2	Col4a5^tm1Yseg/Col4a5⁺ Lamb2^em1Jhm/Lamb2⁺	involves: 129X1/SvJ * C57BL/6J * CBA/J	MGI:6378623
ot3	Col4a5^tm1Yseg/Y	B6.Cg-Col4a5^tm1Yseg	MGI:3610503

Allelic Composition	Col4a5^tm1Yseg/Col4a5⁺
Genetic Background	B6.Cg-Col4a5^tm1Yseg

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a5^tm1Yseg mutation (1 available); any Col4a5 mutation (13 available)

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

mortality/aging

premature death ( J:102306 )

• females become ill and begin to die at 8 weeks of age with a median survival age of 39 weeks; however, some survive to 50 weeks of age

renal/urinary system

increased urine protein level ( J:102306 )

• urine concentrations of protein greater than 10 mg/mg creatinine are seen in 78% of females after 9 weeks of age

abnormal kidney morphology ( J:102306 )

• in older, visibly ill mice, kidneys appear pale and dull and are pockmarked

• the appearance of kidney abnormalities is delayed relative to hemizygous mutant males

abnormal renal glomerulus morphology ( J:102306 )

• abnormalities similar to those in males are seen but at later times

• at 17 weeks of age some glomeruli develop focal areas of lamellation and other diffuse changes with widespread abnormalities seen at 30 weeks of age

abnormal renal tubule morphology ( J:102306 )

• abnormalities similar to those in males are seen but at later times

pale kidney ( J:102306 )

• in older, visibly ill mice, kidneys appear pale

homeostasis/metabolism

increased blood urea nitrogen level ( J:102306 )

increased urine protein level ( J:102306 )

• urine concentrations of protein greater than 10 mg/mg creatinine are seen in 78% of females after 9 weeks of age

vision/eye

abnormal lens capsule morphology ( J:210414 )

• lenses strain significantly more than wild-type lenses in the anterior-posterior direction (along their thickness but not in the equatorial direction) in osmotic swelling experiments indicating increased distensibility of lens capsule

abnormal eye physiology ( J:210414 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked Alport syndrome		DOID:0110034	OMIM:301050	J:102306 , J:210414

Allelic Composition	Col4a5^tm1Yseg/Col4a5⁺ Lamb2^em1Jhm/Lamb2⁺
Genetic Background	involves: 129X1/SvJ * C57BL/6J * CBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a5^tm1Yseg mutation (1 available); any Col4a5 mutation (13 available)
Lamb2^em1Jhm 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

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

mortality/aging

premature death ( J:102306 )

• males become ill and begin to die at 6 weeks of age with none surviving beyond 34 weeks of age

• median survival is 23 weeks of age

renal/urinary system

increased urine protein level ( J:102306 )

• urine concentrations of protein greater than 10 mg/mg creatinine are seen in 97% of males after 7 weeks of age

tubulointerstitial nephritis ( J:102306 )

• at 17 weeks of age widespread interstitial inflammation is seen

abnormal kidney morphology ( J:102306 )

• in older, visibly ill mice, kidneys appear pale and dull and are pockmarked

podocyte foot process effacement ( J:102306 )

• at 17 weeks of age signs of podocyte injury, including foot process effacement, vesiculation, and denudation, are present

abnormal renal glomerulus basement membrane morphology ( J:102306 )

• at 4 weeks of age lamellation of glomerular basement membranes is present

• by 17 weeks of age diffuse basement membrane abnormalities including lamellation and splitting are seen

abnormal renal glomerulus morphology ( J:102306 )

• at 17 weeks of age glomeruli display many, variable abnormalities including capillary loop dilation and simplification, capillary tuft collapse, capsular adhesions, and focal sclerosis

abnormal glomerular capillary morphology ( J:102306 )

• at 4 weeks of age capillary wall thickening is seen

• capillary loop dilation, simplification, and capillary tuft collapse may be seen at 17 weeks of age

dilated glomerular capillary ( J:102306 )

• capillary loop dilation may be seen at 17 weeks of age

increased mesangial cell number ( J:102306 )

• at 4 weeks of age mesangial hypercellularity is seen; however, the tubulointerstitium is similar to wild-type

glomerulosclerosis ( J:102306 )

• focal sclerosis may be observed at at 17 weeks of age

renal glomerular synechia ( J:102306 )

• at 17 weeks of age capsular adhesions may be seen

renal tubule atrophy ( J:102306 )

• at 17 weeks of age tubular atrophy is seen

dilated renal tubule ( J:102306 )

• at 17 weeks of age tubular dilation is seen

pale kidney ( J:102306 )

• in older, visibly ill mice, kidneys appear pale

homeostasis/metabolism

increased blood urea nitrogen level ( J:102306 )

increased urine protein level ( J:102306 )

• urine concentrations of protein greater than 10 mg/mg creatinine are seen in 97% of males after 7 weeks of age

immune system

tubulointerstitial nephritis ( J:102306 )

• at 17 weeks of age widespread interstitial inflammation is seen

cardiovascular system

abnormal glomerular capillary morphology ( J:102306 )

• at 4 weeks of age capillary wall thickening is seen

• capillary loop dilation, simplification, and capillary tuft collapse may be seen at 17 weeks of age

dilated glomerular capillary ( J:102306 )

• capillary loop dilation may be seen at 17 weeks of age

vision/eye

abnormal lens capsule morphology ( J:210414 )

abnormal eye physiology ( J:210414 )

cellular

increased mesangial cell number ( J:102306 )

• at 4 weeks of age mesangial hypercellularity is seen; however, the tubulointerstitium is similar to wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked Alport syndrome		DOID:0110034	OMIM:301050	J:102306 , J:210414

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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