Phenotypes associated with this allele

• Allele Symbol: Nacc1^em1Mdif
• Allele Name: endonuclease-mediated mutation 1, Marian DiFiglia
• Allele ID: MGI:8172584
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nacc1^em1Mdif/Nacc1^em1Mdif	C57BL/6-Nacc1^em1Mdif	MGI:8172942
ht2	Nacc1^em1Mdif/Nacc1^+	C57BL/6-Nacc1^em1Mdif	MGI:8172940

Genotype
MGI:8172942

hm1

• Allelic Composition: Nacc1^em1Mdif/Nacc1^em1Mdif
• Genetic Background: C57BL/6-Nacc1^em1Mdif

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:354196 )

• a reduction in the percentage of homozygotes (both males and females) is seen at P21, however normal numbers are seen at E17.5 and P7, indicating partial lethality between P7 and P21

growth/size/body

slow postnatal weight gain ( J:354196 )

• weight is normal at E17.5, but P7 males and females show reduced weight

• P14 males show reduced weight, while females only show a trend towards reduced weight and P21 males and females show reduced weight indicating mice from P7 to 6 months have delayed weight gain for both males and females

behavior/neurological

limb grasping ( J:354196 )

• homozygotes bred beyond F6 generations exhibit hindlimb clasping; this includes 5 of 6 F8 homozygotes at 3.2 months and 19 of 20 F10 homozygotes at 2.8-3 months of age

seizures ( J:354196 )

• seizure-like behaviors appear at 7 months of age

• seizure-like behaviors include momentary or sustained freezing, whisker twitching and head bobbing and wild jumping

nervous system

seizures ( J:354196 )

• seizure-like behaviors appear at 7 months of age

• seizure-like behaviors include momentary or sustained freezing, whisker twitching and head bobbing and wild jumping

vision/eye

vision/eye phenotype ( J:354196 )

N • no cataracts are seen in 1.5-5-month-old mice

Genotype
MGI:8172940

ht2

• Allelic Composition: Nacc1^em1Mdif/Nacc1⁺
• Genetic Background: C57BL/6-Nacc1^em1Mdif

behavior/neurological

behavior/neurological phenotype ( J:354196 )

N • mice exhibit normal performance in the 2 day novel object recognition test, in the Y-maze, and in grip strength, indicating normal long-term memory recall, short-term spatial working memory, and strength

increased thigmotaxis ( J:354196 )

♀ • females, but not males, spend less time in the center of the open field and more time in the border, possibly indicating greater anxiety

♀ • however, no differences in total distance traveled in the open field are seen

limb grasping ( J:354196 )

• male and female mice at 3 months of age, but not at P14, exhibit increased hindlimb clasping indicating that clasping develops after P14

• females at 6 months of age exhibit increased clasping

short stride length ( J:354196 )

♀ • females exhibit a shorter hindlimb stride length at 4 months of age

♀ • however, no difference in forelimb stride length or in stride width and diagonal stride with are seen

abnormal slow-wave sleep pattern ( J:354196 )

♂ • during SWS, males exhibit higher delta power; this occurs during the light period, when mice are mostly asleep, indicating a deeper SWS and more sleep pressure

increased slow-wave sleep duration ( J:354196 )

♀ • females spend a greater percent of time in slow-wave sleep (SWS)

♀ • aside from this greater time in SWS for females, 24 hour circadian period analysis indicates that mice show an hourly percentage of wakefulness, SWS, and REM sleep similar to wild-type mice

♀ • spectral power distributions of the EEG during wake-sleep cycles are similar to wild-type mice

abnormal paradoxical sleep pattern ( J:354196 )

♀ • during REM sleep, females show a deficit in the percentage of total power associated with theta band; this occurs during the period when mice are highly awake, indicating a deficit in hippocampal synchronization

abnormal nest building behavior ( J:354196 )

♀ • innate ability to build nests is impaired in females

seizures ( J:354196 )

• behavioral seizures are seen in some mice starting from 7 months of age in the home cage either spontaneously or in response to handling, a sudden noise or light stimulus

• seizure-like behaviors include momentary or sustained freezing, whisker twitching and head bobbing and wild jumping

growth/size/body

decreased body weight ( J:354196 )

• P120 and P180 males show reduced weight, while only P180 females have reduced weight, indicating that mice show sex-dependent changes in weight at some ages

slow postnatal weight gain ( J:354196 )

♀ • P7 females show reduced weight, but normal weight at E17.5

♀ • however, males show normal weight at E17.5, P1, P7

nervous system

seizures ( J:354196 )

• behavioral seizures are seen in some mice starting from 7 months of age in the home cage either spontaneously or in response to handling, a sudden noise or light stimulus

• seizure-like behaviors include momentary or sustained freezing, whisker twitching and head bobbing and wild jumping

abnormal brain wave pattern ( J:354196 )

• mice show single or repetitive high-amplitude epileptiform discharges in the EEG during wakefulness and REM sleep

• during wakefulness, epileptiform discharges coincide with low EMG activity and behavioral arrest

• spectral power distribution differs between periods of epileptiform discharges and those of normal wakefulness and REM sleep, with percentage of total power reduced in the delta band (1-3 Hz) and increased in the beta band (13-30 Hz)

• males show other changes in power spectra of the bursting periods during wakefulness (gamma, 55-60 Hz) and REM sleep (theta, 4.5-10 Hz and sigma, 1-3 Hz)

• power spectra analysis of epileptiform discharges during wakefulness also shows rhythmic activity of the theta frequency range in both males and females and is associated with harmonics (at 16 and 24 Hz) characteristic of EEG hypersynchrony

vision/eye

vision/eye phenotype ( J:354196 )

N • no cataracts are seen in 1.5-5-month-old mice