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Phenotypes Associated with This Genotype
Genotype
MGI:3699323
Allelic
Composition
BckdkGt(VICT48)710Lex/BckdkGt(VICT48)710Lex
Genetic
Background
B6.129S5/SvEvBrd-BckdkGt(VICT48)710Lex
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
BckdkGt(VICT48)710Lex mutation (0 available); any Bckdk mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some die at weaning unless wet feed is provided
• delaying weaning by 1 week also greatly improves survival
• some homozygotes that experience severe seizures die

growth/size/body
• 15% smaller at weaning and at 12 weeks of age
• apparent after 2 weeks of age
• the lag phase in the growth of wild-type mice between 2 and 3 weeks of age coincides with a period of weight loss in homozygotes and the growth spurt immediately after the lag phase is delayed by 1 week and is not as robust as in wild-type
• growth of homozygotes is much slower during the 4th week and marginally, but significantly, faster during weeks 5 and 6 and catches up with wild-type after that time, however homozygotes are still smaller than wild-type due to the extra weight gained by wild type during the early growth spurt that does not occur in mutants
• growth is improved if homozygotes are fed a high protein diet
• kidney weight is increased by about 10%
• liver weight is increased by about 10%

behavior/neurological
• exhibit hind limb flexion, extension, and clinching of the hind limbs to their body when hung by the tail
• starting at 3 weeks of age, exhibit an abnormal gait with a predilection to splay their hind limbs
• at approximately 6-7 months of age, develop epileptic seizures, lasting for a few seconds to as long as 2 min
• seizures can be evoked by touching, gently hanging the mutant by the tail for a few seconds or cage changing
• seizure activity starts with lip smaking followed by head bobbing and frequently progresses to fore limb clonus, rearing and generalized tonic/clonic seizure activity with foaming in the mouth
• seizure activity frequently progresses to generalized tonic-clonic seizures

homeostasis/metabolism
• branched-chain amino acid levels are 70-75%, 55%, 50%, and 70% lower in the brain, heart, muscle, and kidney, respectively
• branched-chain amino acid levels are 50-60% lower than in wild-type
• diaphragms oxidize valine to CO2 at 3 times the rate seen in wild-type, resulting in increased CO2 production

adipose tissue
• adipose tissue weight is 40% less than in wild-type

liver/biliary system
• liver weight is increased by about 10%

muscle
• muscle weight is 15% less than in wild-type

renal/urinary system
• kidney weight is increased by about 10%

reproductive system
• although litters are obtained within a month of setting up mating pairs, 3 of the breeding pairs required 8 weeks to produce litters and 6 of the breeding pairs failed to reproduce

nervous system
• at approximately 6-7 months of age, develop epileptic seizures, lasting for a few seconds to as long as 2 min
• seizures can be evoked by touching, gently hanging the mutant by the tail for a few seconds or cage changing
• seizure activity starts with lip smaking followed by head bobbing and frequently progresses to fore limb clonus, rearing and generalized tonic/clonic seizure activity with foaming in the mouth
• seizure activity frequently progresses to generalized tonic-clonic seizures
• brain weight is 30% less than in wild-type

integument
• fur lacks normal luster at 12 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
branched-chain keto acid dehydrogenase kinase deficiency DOID:0090126 OMIM:614923
J:187971


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
01/18/2022
MGI 6.17
The Jackson Laboratory