Phenotypes associated with this allele

• Allele Symbol: Mcat^tm1.1Ssmi
• Allele Name: targeted mutation 1.1, Stuart Smith
• Allele ID: MGI:5466512
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Mcat^tm1.1Ssmi/Mcat^tm1.1Ssmi Tg(CAG-cre/Esr1*)5Amc/0	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA	MGI:5466536
cn2	Mcat^tm1.1Ssmi/Mcat^tm1.1Ssmi A1cf^Tg(Myh6-cre/Esr1*)1Jmk/A1cf^+	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:5466537

Genotype
MGI:5466536

cn1

• Allelic Composition: Mcat^tm1.1Ssmi/Mcat^tm1.1Ssmi; Tg(CAG-cre/Esr1*)5Amc/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA

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

Hair loss and dry skin in tamoxifen treated Mcat^tm1.1Ssmi/Mcat^tm1.1Ssmi Tg(CAG-cre/Esr1*)5Amc/0 mice

mortality/aging

premature death ( J:192213 )

• severely affected tamoxifen-treated mice develop pruritus that leads to self-inflicted scratch wounds and necessitates euthanasia

• tamoxifen-treated mice that do not require euthanasia exhibit mean survival time of 293 days post-induction

hematopoietic system

enlarged spleen ( J:192213 )

• in tamoxifen-treated mice

abnormal myelopoiesis ( J:192213 )

• myeloid hematopoiesis in the bone marrow of some tamoxifen-treated mice

extramedullary hematopoiesis ( J:192213 )

• in some tamoxifen-treated mice

anemia ( J:192213 )

• in some tamoxifen-treated mice

decreased erythrocyte cell number ( J:192213 )

• in some tamoxifen-treated mice

decreased hematocrit ( J:192213 )

• in some tamoxifen-treated mice

decreased hemoglobin content ( J:192213 )

• in some tamoxifen-treated mice

increased mean corpuscular volume ( J:192213 )

• in some tamoxifen-treated mice

increased red blood cell distribution width ( J:192213 )

• in some tamoxifen-treated mice

decreased leukocyte cell number ( J:192213 )

♀ • minor in some female tamoxifen-treated mice

decreased lymphocyte cell number ( J:192213 )

♀ • minor in some female tamoxifen-treated mice

abnormal reticulocyte morphology ( J:192213 )

• tamoxifen-treated mice that develop anemia exhibit increased number and size of reticulocyte compared with control mice

reticulocytosis ( J:192213 )

• in some tamoxifen-treated mice

abnormal erythrocyte physiology ( J:192213 )

• anemic tamoxifen-treated mice exhibit reduced red blood cell lifespan compared with control mice

behavior/neurological

behavior/neurological phenotype ( J:192213 )

N • tamoxifen-treated mice exhibit normal balance and motor coordination

decreased exploration in new environment ( J:192213 )

• in tamoxifen-treated mice

abnormal eating behavior ( J:192213 )

• in tamoxifen-treated mice

excessive scratching ( J:192213 )

• severely affected tamoxifen-treated mice develop pruritus that leads to self-inflicted scratch wounds and necessitates euthanasia

tremors ( J:192213 )

• shivering in tamoxifen-treated mice

decreased grip strength ( J:192213 )

• in tamoxifen-treated mice

abnormal gait ( J:192213 )

• tamoxifen-treated mice walk with splayed hind limbs and drag their posterior unlike control mice

decreased vertical activity ( J:192213 )

• in tamoxifen-treated mice

decreased locomotor activity ( J:192213 )

• reduced exploration and overall activity in an open field test in tamoxifen-treated mice

impaired exercise endurance ( J:192213 )

• tamoxifen-treated mice on a constantly spinning rotarod exhibit reduced endurance compared with control mice

homeostasis/metabolism

impaired exercise endurance ( J:192213 )

• tamoxifen-treated mice on a constantly spinning rotarod exhibit reduced endurance compared with control mice

increased circulating glucose level ( J:192213 )

• in tamoxifen-treated mice

increased circulating lactate level ( J:192213 )

• tamoxifen-treated mice exhibit elevated plasma lactate compared with control mice

abnormal circulating alanine transaminase level ( J:192213 )

• decreased in tamoxifen-treated mice

decreased body temperature ( J:192213 )

• in tamoxifen-treated mice

increased skeletal muscle glycogen level ( J:192213 )

• in tamoxifen-treated mice

increased circulating chloride level ( J:192213 )

• in tamoxifen-treated mice

abnormal lipid homeostasis ( J:192213 )

• tamoxifen-treated mice exhibit compromised fatty acid synthesis due to reduced availability of precursors for lipoylation of key mitochondrial enzymes compared with control mice

increased circulating ketone body level ( J:192213 )

• tamoxifen-treated mice exhibit elevated plasma ketone bodies compared with control mice

integument

decreased subcutaneous adipose tissue amount ( J:192213 )

• in tamoxifen-treated mice

abnormal coat appearance ( J:192213 )

• beginning 3 to 4 months after tamoxifen-treatment, coats have lost their normal luster compared with controls

alopecia ( J:192213 )

• beginning 3 to 4 months after tamoxifen-treatment eventually resulting in severe baldness

hyperkeratosis ( J:192213 )

• in tamoxifen-treated mice

dry skin ( J:192213 )

• in tamoxifen-treated mice

increased pruritus ( J:192213 )

• in severely affected tamoxifen-treated mice that leads to self-inflicted scratch wounds, necessitating euthanasia

digestive/alimentary system

digestive/alimentary phenotype ( J:192213 )

N • tamoxifen-treated mice exhibit normal digestion

rectal hemorrhage ( J:192213 )

• from prolapsed rectum in anemic tamoxifen-treated mice

• however, no blood is observed in the feces

rectal prolapse ( J:192213 )

• in 9 of 10 anemic tamoxifen-treated mice

cardiovascular system

rectal hemorrhage ( J:192213 )

• from prolapsed rectum in anemic tamoxifen-treated mice

• however, no blood is observed in the feces

growth/size/body

decreased body weight ( J:192213 )

• tamoxifen-treated mice fail to gain weight

weight loss ( J:192213 )

• after 6 months in tamoxifen-treated mice

enlarged spleen ( J:192213 )

• in tamoxifen-treated mice

immune system

abnormal myelopoiesis ( J:192213 )

• myeloid hematopoiesis in the bone marrow of some tamoxifen-treated mice

decreased leukocyte cell number ( J:192213 )

♀ • minor in some female tamoxifen-treated mice

decreased lymphocyte cell number ( J:192213 )

♀ • minor in some female tamoxifen-treated mice

abnormal immune system organ morphology ( J:192213 )

• lymphoid atrophy in some tamoxifen-treated mice

enlarged spleen ( J:192213 )

• in tamoxifen-treated mice

adipose tissue

decreased subcutaneous adipose tissue amount ( J:192213 )

• in tamoxifen-treated mice

decreased white adipose tissue amount ( J:192213 )

• in tamoxifen-treated mice

cellular

abnormal cellular respiration ( J:192213 )

• tamoxifen-treated mice exhibit compromised mitochondrial respiration due to defects in protein lipoylation and respiratory complexes compared with wild-type mice

abnormal mitochondrial physiology ( J:192213 )

• tamoxifen-treated mice exhibit compromised mitochondrial respiration due to defects in protein lipoylation and respiratory complexes compared with wild-type mice

muscle

increased skeletal muscle glycogen level ( J:192213 )

• in tamoxifen-treated mice

abnormal muscle physiology ( J:192213 )

• increased glycogen and lactate levels in skeletal muscle of tamoxifen-treated mice

skeleton

kyphosis ( J:192213 )

• in tamoxifen-treated mice

Genotype
MGI:5466537

cn2

• Allelic Composition: Mcat^tm1.1Ssmi/Mcat^tm1.1Ssmi; A1cf^{Tg(Myh6-cre/Esr1*)1Jmk}/A1cf⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

normal phenotype

no abnormal phenotype detected ( J:192213 )

• tamoxifen-treated mice appear normal