Phenotypes associated with this allele

• Allele Symbol: Bace2^tm1Bdes
• Allele Name: targeted mutation 1, Bart De Strooper
• Allele ID: MGI:3603144
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Bace2^tm1Bdes/Bace2^tm1Bdes	involves: 129P2/OlaHsd * C57BL/6J	MGI:3607592
cx2	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

Genotype
MGI:3607592

hm1

• Allelic Composition: Bace2^tm1Bdes/Bace2^tm1Bdes
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

cellular

abnormal cell physiology ( J:100925 )

• fibroblasts secrete higher levels of Abeta compared with wild-type cells; however, no other abnormalities are seen and homozygotes are born at normal frequency, are fertile and healthy, and exhibit normal blood and clinical chemistry and pathological analysis

pigmentation

diluted coat color ( J:197977 )

• on a C57BL/6J background, mice exhibit a diluted silvery coat color relative to wild-type controls

abnormal epidermal melanocyte morphology ( J:197977 )

• skin melanocytes exhibit large round melanosomes and melanosomes with heterogeneous melanin deposits

abnormal melanosome morphology ( J:197977 )

• skin melanocytes show altered early-stage melanosome morphology, as they harbor unusual round vacuoles filled with dense unstructured aggregates and are devoid of elongated fibril-containing premelanosomes

• skin melanocytes exhibit large round melanosomes and melanosomes with heterogeneous melanin deposits

• the % of round melanosomes is significantly increased in the retinal pigment epithelium (RPE) (47% vs. 29% in wild-type controls); however, the number of melanosomes per cell in the RPE is normal

• altered melanosome morphogenesis is likely due to impaired premelanosome protein (PMEL) processing resulting in the accumulation of PMEL amyloid aggregates in melanosomes and a dilution of the coat color

abnormal retina melanin granule morphology ( J:197977 )

• RPE shows significantly less elongated melanosomes with heterogeneous melanin deposits observed in in 87% of the melanosomes

abnormal melanogenesis ( J:197977 )

• mice exhibit coat color dilution reflecting melanogenesis defects

integument

diluted coat color ( J:197977 )

• on a C57BL/6J background, mice exhibit a diluted silvery coat color relative to wild-type controls

abnormal epidermal melanocyte morphology ( J:197977 )

• skin melanocytes exhibit large round melanosomes and melanosomes with heterogeneous melanin deposits

vision/eye

abnormal retina melanin granule morphology ( J:197977 )

• RPE shows significantly less elongated melanosomes with heterogeneous melanin deposits observed in in 87% of the melanosomes

Genotype
MGI:3607595

cx2

• 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)

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