Phenotypes associated with this allele

• Allele Symbol: Ache^tm1Loc
• Allele Name: targeted mutation 1, Oksana Lockridge
• Allele ID: MGI:2179948
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ache^tm1Loc/Ache^tm1Loc	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ	MGI:2181417
hm2	Ache^tm1Loc/Ache^tm1Loc	involves: 129S1/Sv * 129X1/SvJ	MGI:3848448

Genotype
MGI:2181417

hm1

• Allelic Composition: Ache^tm1Loc/Ache^tm1Loc
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ

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

mortality/aging

postnatal lethality, complete penetrance ( J:76453 )

• pups die during the postnatal period between P13-21; none survive beyond 21 days

prenatal lethality, incomplete penetrance ( J:76453 )

growth/size/body

delayed ear emergence ( J:76453 )

• lack of maturation of the ear structure

decreased body weight ( J:76453 )

• weight is lower than wild-type from P2 onward, with a clear difference noted at 7 days after birth; weights decreased 1-2 days prior to death at ~P14

behavior/neurological

impaired righting response ( J:76453 )

• no righting reflex develops even by 21 days of age, whereas wild-type controls show reflex by 8 days of age

tremors ( J:76453 )

• fine motor tremor observed at 3-4 days of age

abnormal posture ( J:76453 )

• splayed feet and legs

abnormal gait ( J:76453 )

• null mice are born at frequency of 20% instead of expected 25%

circling ( J:76453 )

• null mice exhibit continuous circling movement upon separation from the nest

nervous system

abnormal cerebral hemisphere morphology ( J:76453 )

• cerebral hemispheres are transulucent in 12-day old mice, whereas they are opaque in wild-type littermates

hearing/vestibular/ear

delayed ear emergence ( J:76453 )

• lack of maturation of the ear structure

vision/eye

eyelids fail to open ( J:76453 )

• failure of eyelids to open; sealed even on P21, while littermates open on P8 to 12

craniofacial

delayed ear emergence ( J:76453 )

• lack of maturation of the ear structure

Genotype
MGI:3848448

hm2

• Allelic Composition: Ache^tm1Loc/Ache^tm1Loc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

mortality/aging

increased susceptibility to xenobiotic induced morbidity/mortality ( J:130048 )

• CPO-treated mice die within 11 minutes unlike simiarly treated wild-type mice

homeostasis/metabolism

abnormal physiological response to xenobiotic ( J:130048 )

• donepezil-treated mice exhibit a thick exudates forming over the eyes unlike similarly treated wild-type mice but similar to homozygous mice under stress

• however, donepezil-treated mice do not exhibit a change in body temperature

increased susceptibility to xenobiotic induced morbidity/mortality ( J:130048 )

• CPO-treated mice die within 11 minutes unlike simiarly treated wild-type mice

increased physiological sensitivity to xenobiotic ( J:130048 )

• CPO-treated mice exhibit cholinergic symptoms and die within 11 minutes unlike simialrly treated wild-type mice