Phenotypes associated with this allele

• Allele Symbol: Bloc1s1^tm1.1Wli
• Allele Name: targeted mutation 1.1, Wei Li
• Allele ID: MGI:5824712
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Bloc1s1^tm1.1Wli/Bloc1s1^tm1.1Wli	involves: 129 * C57BL/6J	MGI:5829700

Genotype
MGI:5829700

hm1

• Allelic Composition: Bloc1s1^tm1.1Wli/Bloc1s1^tm1.1Wli
• Genetic Background: involves: 129 * C57BL/6J

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

Missing eye pigment in E14.5 Bloc1s1^tm1.1Wli/Bloc1s1^tm1.1Wli embryos

mortality/aging

prenatal lethality, complete penetrance ( J:238911 )

• homozygotes start dying at ~E12.5

pigmentation

absent eye pigmentation ( J:238911 )

• eye pigment is missing at E14.5

cellular

cellular phenotype ( J:238623 )

N • no changes of intracellular Notch1 (N^TM) levels are observed in isolated mouse embryonic fibroblasts (MEFs) or in cortex lysates derived from E10.5 brains relative to wild-type controls

N • no changes of EGFR (epidermal growth factor receptor) levels are observed in MEFs or cortex lysates relative to wild-type controls

N • MEFs show no apparent changes in lysosomal number or function

abnormal lysosome morphology ( J:238911 )

• MEFs derived from E12.5 mutant embryos show significant accumulation of endolysosomes (or pre-lysosomes) relative to wild-type MEFs

• however, the numbers of multivesicular bodies, late endosomes, and lysosomes are relatively normal

abnormal autophagy ( J:238911 )

• MEFs derived from E12.5 mutant embryos show a significant increase in autophagosomes relative to wild-type MEFs

abnormal vesicle-mediated transport ( J:238911 )

• MEFs derived from E12.5 mutant embryos show accumulation of endolysosomes (or pre-lysosomes) and delayed lysosomal degradation of EGFR relative to wild-type MEFs

vision/eye

absent eye pigmentation ( J:238911 )

• eye pigment is missing at E14.5

homeostasis/metabolism

abnormal autophagy ( J:238911 )

• MEFs derived from E12.5 mutant embryos show a significant increase in autophagosomes relative to wild-type MEFs