Phenotypes associated with this allele

• Allele Symbol: Cldn12^{tm1.1(KOMP)Vlcg}
• Allele Name: targeted mutation 1.1, Velocigene
• Allele ID: MGI:6368841
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cldn12^tm1.1(KOMP)Vlcg/Cldn12^tm1.1(KOMP)Vlcg	B6J.B6N-Cldn12^tm1.1(KOMP)Vlcg	MGI:6369369

Genotype
MGI:6369369

hm1

• Allelic Composition: Cldn12^{tm1.1(KOMP)Vlcg}/Cldn12^{tm1.1(KOMP)Vlcg}
• Genetic Background: B6J.B6N-Cldn12^{tm1.1(KOMP)Vlcg}
• Cell Lines: 13208A-A6

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:279934 )

• mice survive to weaning age at less than the expected Mendelian ratio, with only 17.2% of homozygotes obtained at weaning

• however, adult mice are fertile and healthy with no differences in mortality

growth/size/body

increased body fat mass ( J:279934 )

♀ • slightly increased fat content mainly in females

decreased body mass index ( J:279934 )

♀ • decreased body mass mainly in females

increased body weight ( J:279934 )

♂ • increased body weight in males only

decreased body length ( J:279934 )

♀ • decreased body length in females

increased liver weight ( J:279934 )

♂ • increased absolute and normalized liver weight in the absence of pathological changes

increased spleen weight ( J:279934 )

♂ • increased absolute and normalized spleen weight in the absence of pathological changes

behavior/neurological

decreased food intake ( J:279934 )

♀ • decreased food intake mainly in females

decreased anxiety-related response ( J:279934 )

♀ • decreased anxiety in the open field assay in females

decreased startle reflex ( J:279934 )

• minor decrease in acoustic startle reactivity

tremors ( J:279934 )

♀ • tremors in 3 of 15 females

abnormal motor coordination/balance ( J:279934 )

• increased tail elevation at SHIRPA

decreased vertical activity ( J:279934 )

• decreased rearing in both males and females

decreased locomotor activity ( J:279934 )

• decreased locomotor activity in the open field assay

homeostasis/metabolism

increased circulating creatinine level ( J:279934 )

• trend towards increased creatinine values when fed ad libitum

decreased fasting circulating glucose level ( J:279934 )

• slightly decreased basal fasting glucose levels in intraperitoneal glucose tolerance test

increased circulating glucose level ( J:279934 )

♀ • slightly increased glucose levels in females after fasting

abnormal circulating non-HDL cholesterol level ( J:279934 )

• subtle increase in non-HDL cholesterol levels after fasting

decreased circulating free fatty acids level ( J:279934 )

♀ • slightly decreased non-esterified fatty acid (NEFA) levels in females after fasting

decreased circulating triglyceride level ( J:279934 )

• trend towards decreased triglyceride levels when fed ad libitum

decreased circulating total protein level ( J:279934 )

• trend towards decreased plasma protein levels when fed ad libitum

decreased respiratory quotient ( J:279934 )

♀ • respiratory exchange ratio (RER) shifted towards lipid oxidation, mainly in females

increased alkaline phosphatase activity ( J:279934 )

• trend towards increased ALP activity

cardiovascular system

decreased cardiac stroke volume ( J:279934 )

♀ • volume of blood pumped with each beat is reduced, more often observed in females

increased cardiac muscle contractility ( J:279934 )

♀ • increased fractional shortening (FS) and ejection fraction (EF) volume, more often observed in females

abnormal heart echocardiography feature ( J:279934 )

♀ • altered awake echocardiography features, including smaller left ventricle (reduced inner diameter and LV mass) increased fractional shortening (FS) and ejection fraction (EF), and reduced stroke volume, more often observed in females

shortened PR interval ( J:279934 )

♀ • mild decrease in PR interval duration, more often observed in females

shortened PQ interval ( J:279934 )

♀ • mild decrease in PQ interval duration, more often observed in females

hematopoietic system

increased spleen weight ( J:279934 )

♂ • increased absolute and normalized spleen weight in the absence of pathological changes

decreased erythrocyte cell number ( J:279934 )

♂ • decreased RBC mainly in males

increased mean corpuscular hemoglobin ( J:279934 )

♂ • increased MCH mainly in males

macrocytosis ( J:279934 )

♂ • mild macrocytosis with increased MCH and decreased RBC mainly in males

increased leukocyte cell number ( J:279934 )

♂ • increased WBC mainly in males

muscle

increased cardiac muscle contractility ( J:279934 )

♀ • increased fractional shortening (FS) and ejection fraction (EF) volume, more often observed in females

adipose tissue

increased body fat mass ( J:279934 )

♀ • slightly increased fat content mainly in females

immune system

immune system phenotype ( J:279934 )

N • after induction of active autoimmune encephalomyelitis (EAE), mice show normal EAE development with no differences in clinical disease onset, incidence or overall disease severity relative to wild-type controls

increased spleen weight ( J:279934 )

♂ • increased absolute and normalized spleen weight in the absence of pathological changes

increased leukocyte cell number ( J:279934 )

♂ • increased WBC mainly in males

liver/biliary system

increased liver weight ( J:279934 )

♂ • increased absolute and normalized liver weight in the absence of pathological changes

nervous system

nervous system phenotype ( J:279934 )

N • freshly isolated brain microvessels from healthy mice show normal expression levels of tight junction (TJ)-associated proteins (claudin-5, occludin and ZO-1) relative to wild-type controls, indicating normal composition and integrity of blood-brain barrier (BBB) TJs

N • mice show no differences in the amount of leakage of fibronectin or mouse IgG across the BBB under healthy or neuroinflammatory conditions (during EAE) relative to wild-type controls

skeleton

decreased bone mineral content ( J:279934 )

♀ • significantly decreased BMC and bone content in females

decreased bone volume ( J:279934 )

♀ • significantly decreased bone content in females

vision/eye

microphthalmia ( J:279934 )

• significantly reduced axial eye length (distance between cornea and retina) in both males and females

decreased total retina thickness ( J:279934 )

♀ • decreased retinal thickness in females

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:279934 )

• slightly reduced hearing sensitivity at 24 kHz