All Phenotypes Bace1<tm1Psa> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Bace1^tm1Psa
targeted mutation 1, Paul Saftig
MGI:3603141

Summary

7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Bace1^tm1Psa/Bace1^tm1Psa	either: (involves: 129S2/SvPas * C57BL/6J) or (involves: 129S2/SvPas * CD-1)	MGI:3607588
hm2	Bace1^tm1Psa/Bace1^tm1Psa	involves: 129S2/SvPas * C57BL/6	MGI:5524259
hm3	Bace1^tm1Psa/Bace1^tm1Psa	involves: 129S2/SvPas * C57BL/6J	MGI:6209429
ht4	Bace1^tm1Psa/Bace1⁺	involves: 129S2/SvPas * C57BL/6	MGI:5524262
cx5	Bace1^tm1Psa/Bace1^tm1Psa Bace2^tm1Bdes/Bace2^tm1Bdes	either: (involves: 129/Sv * 129P2/OlaHsd * C57BL/6J) or (involves: 129/Sv * 129P2/OlaHsd * C57BL/6J * CD-1)	MGI:3607595
cx6	Bace1^tm1Psa/Bace1^tm1Psa Nrg1^tm4.1Cbm/Nrg1⁺	involves: 129P2/OlaHsd * 129S2/SvPas * BALB/cJ * C57BL/6	MGI:5524258
cx7	Bace1^tm1Psa/Bace1^tm1Psa Tg(Thy1-Nrg1*I)1Kan/0	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6	MGI:5524261

Allelic Composition	Bace1^tm1Psa/Bace1^tm1Psa
Genetic Background	either: (involves: 129S2/SvPas * C57BL/6J) or (involves: 129S2/SvPas * CD-1)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bace1^tm1Psa mutation (0 available); any Bace1 mutation (30 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:100925 )

• 19% die within the first 3-6 days of birth and 24% die by 3-4 weeks of age

growth/size/body

decreased body weight ( J:100925 )

• mice surviving to adulthood are about 30% smaller by weight than controls

cachexia ( J:100925 )

• the 24% that die by 3-4 weeks of age die from a wasting syndrome, although overall immune defense is normal

postnatal growth retardation ( J:100925 )

• the 24% that die by 3-4 weeks of age are growth retarded

behavior/neurological

decreased anxiety-related response ( J:100925 )

hyperactivity ( J:100925 )

nervous system

abnormal nervous system physiology ( J:100925 )

• neurons do not process APP at the known beta-secretase sites and thus do not produce any measurable Abeta, although glial cells do produce Abeta

abnormal channel response ( J:100925 )

• significant shift in steady-state inactivation of the Na⁺ current toward more depolarized potentials, indicating that a larger fraction of Na⁺ channels is available at a given potential compared to wild-type

Allelic Composition	Bace1^tm1Psa/Bace1^tm1Psa
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bace1^tm1Psa mutation (0 available); any Bace1 mutation (30 available)

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

muscle

abnormal muscle spindle morphology ( J:199150 )

• small diameter and few intrafusal fibers

decreased muscle spindle number ( J:199150 )

• in newborn mice persisting through adulthood

• however, muscle spindle number at P0 is normal

behavior/neurological

impaired coordination ( J:199150 )

• mice hang on to an inverted grid 3 times less than wild-type mice

abnormal gait ( J:199150 )

• impaired left/right coordination

• swaying walking

nervous system

abnormal muscle spindle morphology ( J:199150 )

• small diameter and few intrafusal fibers

decreased muscle spindle number ( J:199150 )

• in newborn mice persisting through adulthood

• however, muscle spindle number at P0 is normal

demyelination ( J:199150 )

• peripheral without Schwann cell turn-over

Allelic Composition	Bace1^tm1Psa/Bace1^tm1Psa
Genetic Background	involves: 129S2/SvPas * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bace1^tm1Psa mutation (0 available); any Bace1 mutation (30 available)

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

pigmentation

pigmentation phenotype ( J:197977 )

N	• mice do not display any coat color defects on a C57BL/6J background

Allelic Composition	Bace1^tm1Psa/Bace1⁺
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bace1^tm1Psa mutation (0 available); any Bace1 mutation (30 available)

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

muscle

decreased muscle spindle number ( J:199150 )

• in newborn mice persisting through adulthood

nervous system

decreased muscle spindle number ( J:199150 )

• in newborn mice persisting through adulthood

Allelic Composition	Bace1^tm1Psa/Bace1^tm1Psa Bace2^tm1Bdes/Bace2^tm1Bdes
Genetic Background	either: (involves: 129/Sv * 129P2/OlaHsd * C57BL/6J) or (involves: 129/Sv * 129P2/OlaHsd * C57BL/6J * CD-1)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bace1^tm1Psa mutation (0 available); any Bace1 mutation (30 available)
Bace2^tm1Bdes mutation (2 available); any Bace2 mutation (43 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:100925 )

• approximately 42% die within the first 3-5 days after birth and an additional 20% die within the first 3-4 weeks of age

growth/size/body

decreased body size ( J:100925 )

• mice surviving to adulthood are smaller than controls

cachexia ( J:100925 )

• the 20% that die by 3-4 weeks of age die from a wasting syndrome

nervous system

abnormal nervous system physiology ( J:100925 )

• neurons and glia do not process APP and thus do not produce Abeta

Allelic Composition	Bace1^tm1Psa/Bace1^tm1Psa Nrg1^tm4.1Cbm/Nrg1⁺
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas * BALB/cJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bace1^tm1Psa mutation (0 available); any Bace1 mutation (30 available)
Nrg1^tm4.1Cbm mutation (0 available); any Nrg1 mutation (54 available)

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

muscle

abnormal muscle spindle morphology ( J:199150 )

• large diameter and high intrafusal fiber numbers

• however, outer capsule morphology and innervation

decreased muscle spindle number ( J:199150 )

• more pronounced in Nrg1^tm4.1Cbm homozygotes

nervous system

abnormal muscle spindle morphology ( J:199150 )

• large diameter and high intrafusal fiber numbers

• however, outer capsule morphology and innervation

decreased muscle spindle number ( J:199150 )

• more pronounced in Nrg1^tm4.1Cbm homozygotes

Allelic Composition	Bace1^tm1Psa/Bace1^tm1Psa Tg(Thy1-Nrg1*I)1Kan/0
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bace1^tm1Psa mutation (0 available); any Bace1 mutation (30 available)
Tg(Thy1-Nrg1*I)1Kan mutation (0 available)

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

muscle

decreased muscle spindle number ( J:199150 )

• as in Bace1^tm1Psa homozygotes

nervous system

nervous system phenotype ( J:199150 )

N	• unlike Tg(Thy1-Nrg1*I)1Kan mice, there is no increase in the survival of proprioceptive neurons during the selection phase

decreased muscle spindle number ( J:199150 )

• as in Bace1^tm1Psa homozygotes

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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