Phenotypes associated with this allele

• Allele Symbol: Camkmt^tm1Rpav
• Allele Name: targeted mutation 1, Ruti Parvari
• Allele ID: MGI:5804590
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Camkmt^tm1Rpav/Camkmt^tm1Rpav	B6.129S7-Camkmt^tm1Rpav	MGI:5804654
hm2	Camkmt^tm1Rpav/Camkmt^tm1Rpav	involves: 129S7/SvEvBrd * C57BL/6J	MGI:5804652

Genotype
MGI:5804654

hm1

• Allelic Composition: Camkmt^tm1Rpav/Camkmt^tm1Rpav
• Genetic Background: B6.129S7-Camkmt^tm1Rpav

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

behavior/neurological

behavior/neurological phenotype ( J:228818 )

♂N • mice exhibit normal behavior in an open field test

abnormal behavior ( J:228818 )

• reduced nest finding behavior at P8-P10

• however, older mice exhibit normal nest finding

impaired passive avoidance behavior ( J:228818 )

♂ • failure to acquire learning of the task

♂ • however, response time in the hot plate test is normal

impaired coordination ( J:228818 )

♂ • on a rotating rod without improvement with training

decreased grip strength ( J:228818 )

• reduced wire hang time at P7 in female mice and at P17 in male mice

• at 3 months in male mice

behavioral developmental delay ( J:228818 )

• delayed acquisition of attraction to auditory stimulus

• however, auditory response is normal by P15 in males and P14 in females

growth/size/body

decreased body weight ( J:228818 )

• in newborns until 80 days of age

• however, male weight at 3 months of age is normal

muscle

muscle phenotype ( J:228818 )

♂N • mice exhibit normal muscle structure

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypotonia-cystinuria syndrome		DOID:0060858	OMIM:606407	J:218818

Genotype
MGI:5804652

hm2

• Allelic Composition: Camkmt^tm1Rpav/Camkmt^tm1Rpav
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

muscle

increased variability of skeletal muscle fiber size ( J:228818 )

myopathy ( J:228818 )

cellular

abnormal mitochondrial ATP synthesis coupled electron transport ( J:228818 )

• reduced complex I and IV activity in the brain

• reduced complex I, but not IV, in muscle

renal/urinary system

renal/urinary system phenotype ( J:228818 )

N • mice exhibit no cysteine in the urine

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypotonia-cystinuria syndrome		DOID:0060858	OMIM:606407	J:218818