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Phenotypes Associated with This Genotype
Genotype
MGI:6501951
Allelic
Composition
Col4a4m1H/Col4a4m1H
Genetic
Background
involves: C3H/HeH * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a4m1H mutation (0 available); any Col4a4 mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice have a mean survival time of 70 days, ranging from 37-103 days
• Background Sensitivity: G3 mice outcrossed one generation on C3H/HeH and then intercrossed show reduced survival time to a mean of 47 days while mice outcrossed one generation on C57BL/6J and the intercrossed show an increased mean survival time to 97 days

growth/size/body
• mice are lighter by 5 weeks of age

renal/urinary system
• Background Sensitivity: mice outcrossed one generation to C3H/HeH show a greater decrease in urine potassium levels at 4 weeks of age than mice outcrossed one generation to C57BL/6J
• mice outcrossed one generation to C3H/HeH show a greater decrease in urine sodium levels at 4 weeks of age than mice outcrossed one generation to C57BL/6J
• protein to creatinine ratio is elevated from 4 weeks of age but not significantly
• mice outcrossed one generation to C3H/HeH show a similar increase in proteinuria at 7-weeks of age as mice outcrossed one generation to C57BL/6J
• Background Sensitivity: proteinuria level is higher in 4-week old mice outcrossed one generation to C3H/HeH than in mice outcrossed one generation to C57BL/6J
• Background Sensitivity: hematuria level is higher in 4-week old mice outcrossed one generation to C3H/HeH than in mice outcrossed one generation to C57BL/6J
• Background Sensitivity: mice outcrossed one generation to C3H/HeH show increased levels of markers of kidney injury compared to mice outcrossed one generation to C57BL/6J, indicating slower progression of disease on the C57BL/6J background than on a C3H/HeH background
• Background Sensitivity: foot processes are thickened, flattened, and irregular in 4-week old mice outcrossed one generation to C3H/HeH but not in mice outcrossed one generation to C57BL/6J
• Background Sensitivity: podocytes often show complete effacement in 7-week old mice outcrossed one generation to C3H/HeH which is not seen in mice outcrossed one generation to C57BL/6J
• Background Sensitivity: podocytes appear larger and swollen in 4-week old mice outcrossed one generation to C3H/HeH but not in mice outcrossed one generation to C57BL/6J
• some 4-week old mice show moderate glomerulonephropathy in the kidneys and all mice show marked diffuse glomerulonephropathy affecting the whole cortex from week 7
• glomerulonephropathy is characterized by diffuse involvement of glomeruli and tubules with enlargement, increased cellularity and sclerosis of glomeruli and degenerative and regenerative changes in tubules and hyaline casts
• Background Sensitivity: mice outcrossed one generation to C3H/HeH show severe diffuse glomerulopathy at 7 weeks of age compared to minimal to moderate tubular changes but no significant glomerular changes in mice outcrossed one generation to C57BL/6J, indicating that C57BL/6J is a protective background for disease development
• mice at 53 days of age exhibit degenerative and regenerative changes in tubules resulting in tubular dilatation
• mice at 53 days of age exhibit hyaline casts
• glomerular creatinine clearance decreases over time and is significantly lower by 7 weeks of age
• Background Sensitivity: mice backcrossed one generation to C3H/HeH show reduced glomerular creatinine clearance compared to mice backcrossed one generation to C57BL/6J
• Background Sensitivity: G3 mice outcrossed one generation to C3H/HeH show aggressive and early onset of renal failure while mice outcrossed one generation to C57BL/6J show slower progression of disease
• mice produce more urine from 4 weeks of age but urine levels decrease with time
• mice outcrossed one generation to C3H/HeH show a similar increase in urine output as mice outcrossed one generation to C57BL/6J

behavior/neurological
• mice consume more water from 4 weeks of age
• mice outcrossed one generation to C3H/HeH show a similar increase in water intake as mice outcrossed one generation to C57BL/6J

hematopoietic system
• Background Sensitivity: leukocyte levels are higher in 4-week old mice outcrossed one generation to C3H/HeH than in mice outcrossed one generation to C57BL/6J

homeostasis/metabolism
• plasma creatinine levels are increased starting at 5 weeks of age
• Background Sensitivity: mice outcrossed one generation to C3H/HeH show higher serum creatinine levels than mice outcrossed one generation to C57BL/6J which show similar levels seen in wild-type mice
• mice show a progressive increase in plasma urea levels from 4 to 7 weeks of age
• Background Sensitivity: mice outcrossed one generation to C3H/HeH show higher serum urea levels than mice outcrossed one generation to C57BL/6J which show similar levels seen in wild-type mice
• plasma albumin levels are decreased staring at 4 weeks of age
• mice outcrossed one generation to C3H/HeH show a similar level of hypoalbuminuria at 7 weeks of age as mice outcrossed one generation to C57BL/6J
• Background Sensitivity: however, serum albumin levels are reduced in 4-week old mice that are outcrossed one generation to C3H/HeH but not in mice that are outcrossed one generation to C57BL/6J which show similar level to wild-type mice indicating an earlier reduction in albumin levels in mice outcrossed to C3H/HeH than in C57BL/6J outcrossed mice
• Background Sensitivity: mice outcrossed one generation to C3H/HeH show a greater decrease in urine potassium levels at 4 weeks of age than mice outcrossed one generation to C57BL/6J
• mice outcrossed one generation to C3H/HeH show a greater decrease in urine sodium levels at 4 weeks of age than mice outcrossed one generation to C57BL/6J
• protein to creatinine ratio is elevated from 4 weeks of age but not significantly
• mice outcrossed one generation to C3H/HeH show a similar increase in proteinuria at 7-weeks of age as mice outcrossed one generation to C57BL/6J
• Background Sensitivity: proteinuria level is higher in 4-week old mice outcrossed one generation to C3H/HeH than in mice outcrossed one generation to C57BL/6J
• Background Sensitivity: hematuria level is higher in 4-week old mice outcrossed one generation to C3H/HeH than in mice outcrossed one generation to C57BL/6J

immune system
• Background Sensitivity: leukocyte levels are higher in 4-week old mice outcrossed one generation to C3H/HeH than in mice outcrossed one generation to C57BL/6J

hearing/vestibular/ear
N
• auditory brain stem response thresholds are similar to wild-type mice

vision/eye
N
• optokinetic drum scores, slit lamp, and opthalmoscopic observations are similar to wild-type mice indicating normal vision

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive Alport syndrome DOID:0110033 OMIM:203780
J:285510


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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last database update
08/09/2022
MGI 6.21
The Jackson Laboratory