Phenotypes Associated with This Genotype

Genotype
MGI:3582615

• Allelic Composition: Mkks^tm1Vcs/Mkks^tm1Vcs
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:99276 )

• the proportion of homozygotes is decreased to 19.1% and data suggest death late in gestation

vision/eye

increased susceptibility to age-related retinal degeneration ( J:99276 )

• at 2-3 months of age a slight reduction in the outer nuclear layer and some cell nuclei in the subretinal space were seen

• at 8 months of age the outer nuclear layer is completely degenerated and no remnants of the inner or outer segments are seen

growth/size/body

decreased body weight ( J:99276 )

• at weaning homozygotes weigh significantly less than wild-type or heterozygous littermates

obese ( J:99276 )

• by 28 weeks of age homozygotes weigh significantly more than wild-type or heterozygous littermates and the weight difference is greater in females than in males

cardiovascular system

increased systemic arterial blood pressure ( J:99276 )

• diastolic, systolic, and mean blood pressure are increased with mean arterial pressure increased on average by 12 mmHg

behavior/neurological

decreased aggression ( J:99276 )

• homozygotes are more docile during handling and in 72% and 76% of trials were submissive to wild-type and heterozygous mice, respectively

decreased locomotor activity ( J:99276 )

• 24 hour telemetry indicates a significant decrease in activity; however, no significant differences in muscle or motor neuron function dependent behaviors are seen

decreased vocalization ( J:99276 )

♀ • females are less vocal during handling

homeostasis/metabolism

increased circulating leptin level ( J:99276 )

limbs/digits/tail

limbs/digits/tail phenotype ( J:99276 )

N • no polydactyly or other notable limb malformations are seen

reproductive system

absent sperm flagellum ( J:99276 )

♂ • spermatozoa lack flagella but have normally formed heads and cilia on epithelial cells form normally

male infertility ( J:99276 )

♂

taste/olfaction

abnormal olfaction ( J:99276 )

• decreased olfactory ability suggested by a decreased ability to find hidden food

cellular

absent sperm flagellum ( J:99276 )

♂ • spermatozoa lack flagella but have normally formed heads and cilia on epithelial cells form normally

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bardet-Biedl syndrome 6		DOID:0110128	OMIM:605231	J:99276
obesity		DOID:9970	OMIM:601665	J:99276