Phenotypes associated with this allele

• Allele Symbol: Clic5^jbg
• Allele Name: jitterbug
• Allele ID: MGI:3663254
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Clic5^jbg/Clic5^jbg	129S.C3-Clic5^jbg	MGI:6275007
hm2	Clic5^jbg/Clic5^jbg	C3H/HeJ-Clic5^jbg/J	MGI:3663262
hm3	Clic5^jbg/Clic5^jbg	involves: C3H/HeJ * C57BL/6	MGI:6275020

Genotype
MGI:6275007

hm1

• Allelic Composition: Clic5^jbg/Clic5^jbg
• Genetic Background: 129S.C3-Clic5^jbg

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

vision/eye

abnormal lens development ( J:269554 )

• absence of lens sutures at 6 weeks of age

• diffuse opacity on the lens optical axis is seen

Genotype
MGI:3663262

hm2

• Allelic Composition: Clic5^jbg/Clic5^jbg
• Genetic Background: C3H/HeJ-Clic5^jbg/J

homeostasis/metabolism

increased urine protein level ( J:184254 )

• increase in proteinuria in mutant mice

albuminuria ( J:243805 )

increased susceptibility to injury ( J:243805 )

• increased vulnerability of mice to glomerular injury upon adriamycin treatment

cardiovascular system

abnormal glomerular capillary endothelium morphology ( J:243805 )

• significant expansion of the EC compartment and an increase in the total capillary lumen area

abnormal glomerular endothelium fenestra morphology ( J:243805 )

• large vacuoles were observed in many glomerular EC bodies, but the structure of the fenestrated portion of the glomerular endothelium appears normal

hearing/vestibular/ear

abnormal cochlear hair cell stereociliary bundle morphology ( J:112741 )

• at 3 days of age hair bundle orientation, patterning, and morphology appear nearly normal but by 15 days of age abnormal and missing stereocilia are commonly observed in hair cells throughout the cochlear duct and progressive degeneration of hair cells is found with diminished numbers in the crista ampullaris by 3 months of age and nearly absent by 12 months of age

cochlear inner hair cell degeneration ( J:112741 )

• outer hair cells degenerate before innner hair cells

cochlear outer hair cell degeneration ( J:112741 )

• outer hair cells degenerate before innner hair cells

organ of Corti degeneration ( J:112741 )

• severe degeneration by 12 months of age

• Reissner's membrane and stria vascularis remain intact despite degeneration in the inner ear

vestibular hair cell degeneration ( J:112741 )

• progressive degeneration of vestibular hair cells

• in the crista ampullaris, vestibular hair cells are markedly reduced in number at 3 months and nearly absent at 12 months of age

increased or absent threshold for auditory brainstem response ( J:112741 )

• at 1 to 5 months of age homozygotes have an ABR threshold of 40-50 dB above wildtype controls

• by 7 months of age, mutants show no evoked response to the highest auditory stimuli presented

deafness ( J:112741 )

• hearing loss leads to deafness by 7 months of age

behavior/neurological

impaired swimming ( J:112741 )

• homozygotes fail to orient in water

head bobbing ( J:112741 )

bidirectional circling ( J:112741 )

renal/urinary system

increased urine protein level ( J:184254 )

• increase in proteinuria in mutant mice

albuminuria ( J:243805 )

abnormal podocyte foot process morphology ( J:184254 , J:243805 )

• podocyte cell bodies have a smoother cell surface than control podocytes, which have microvilli-like structures extension on their cell surfaces (J:184254)

• many foot processes were observed to be shorter in length in mutant versus control podocytes; measurements of these processes revealed a significant reduction in longitudinal length by more than 50% in mutant mice compared with conrols (J:184254)

• foot processes have significant disorganization, but not complete effacement (J:184254)

• reduced number of foot processes per linear unit of the glomerular basement membrane (J:243805)

podocyte foot process effacement ( J:243805 )

abnormal renal glomerulus morphology ( J:243805 )

abnormal glomerular capillary endothelium morphology ( J:243805 )

• significant expansion of the EC compartment and an increase in the total capillary lumen area

abnormal glomerular endothelium fenestra morphology ( J:243805 )

• large vacuoles were observed in many glomerular EC bodies, but the structure of the fenestrated portion of the glomerular endothelium appears normal

abnormal kidney physiology ( J:243805 )

• increased vulnerability of mice to glomerular injury upon adriamycin treatment

nervous system

abnormal cochlear hair cell stereociliary bundle morphology ( J:112741 )

• at 3 days of age hair bundle orientation, patterning, and morphology appear nearly normal but by 15 days of age abnormal and missing stereocilia are commonly observed in hair cells throughout the cochlear duct and progressive degeneration of hair cells is found with diminished numbers in the crista ampullaris by 3 months of age and nearly absent by 12 months of age

cochlear inner hair cell degeneration ( J:112741 )

• outer hair cells degenerate before innner hair cells

cochlear outer hair cell degeneration ( J:112741 )

• outer hair cells degenerate before innner hair cells

vestibular hair cell degeneration ( J:112741 )

• progressive degeneration of vestibular hair cells

• in the crista ampullaris, vestibular hair cells are markedly reduced in number at 3 months and nearly absent at 12 months of age

cochlear ganglion degeneration ( J:112741 )

• density of spiral ganglion cells is diminished in the cochlea by 12 months of age

respiratory system

abnormal pulmonary alveolus morphology ( J:112741 )

• progressive enlargement of alveolar air spaces

Genotype
MGI:6275020

hm3

• Allelic Composition: Clic5^jbg/Clic5^jbg
• Genetic Background: involves: C3H/HeJ * C57BL/6

adipose tissue

decreased total body fat amount ( J:160186 )

liver/biliary system

decreased susceptibility to diet-induced hepatic steatosis ( J:160186 )

• on a high fat diet, mutant mice do not accumulate lipid in the liver

behavior/neurological

lethargy ( J:160186 )

polyphagia ( J:160186 )

increased aggression towards male mice ( J:160186 )

head bobbing ( J:160186 )

abnormal gait ( J:160186 )

• mice enter torpor more quickly than controls during fasting

hyperactivity ( J:160186 )

cardiovascular system

gastrointestinal hemorrhage ( J:160186 )

• incomplete penetrance, observed in more than half of the homozygous mutants

growth/size/body

increased susceptibility to weight loss ( J:160186 )

• mutant mice rapidly lose body weight under fasting conditions

decreased body size ( J:160186 )

• observable by weaning age and older

decreased body length ( J:160186 )

homeostasis/metabolism

decreased circulating glucose level ( J:160186 )

increased circulating glucagon level ( J:160186 )

decreased circulating insulin level ( J:160186 )

decreased circulating leptin level ( J:160186 )

decreased body temperature ( J:160186 )

increased respiratory quotient ( J:160186 )

• RQ is elevated during the dark cycle of the day

• RQ is similar to controls during the light cycle of the day

hematopoietic system

decreased eosinophil cell number ( J:160186 )

decreased neutrophil cell number ( J:160186 )

decreased monocyte cell number ( J:160186 )

digestive/alimentary system

gastrointestinal hemorrhage ( J:160186 )

• incomplete penetrance, observed in more than half of the homozygous mutants

decreased digestive secretion ( J:160186 )

• after overnight fasting, histamine-stimulated acid secretion is reduced

• however, no significant histological or ultrastructural abnormalities were found in any sections of the stomach

increased stomach pH ( J:160186 )

immune system

decreased eosinophil cell number ( J:160186 )

decreased neutrophil cell number ( J:160186 )

decreased monocyte cell number ( J:160186 )