Phenotypes associated with this allele

• Allele Symbol: Hspa5^baffled
• Allele Name: baffled
• Allele ID: MGI:4888745
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hspa5^baffled/Hspa5^baffled	FVB.Cg-Hspa5^baffled	MGI:5466151
cx2	Hspa5^baffled/Hspa5^baffled Tg(Mbp-MAPT/lacZ)#aCaw/Tg(Mbp-MAPT/lacZ)#aCaw	involves: BALB/c * C57BL/6 * C57BL/6J * FVB/N	MGI:4889078

Genotype
MGI:5466151

hm1

• Allelic Composition: Hspa5^baffled/Hspa5^baffled
• Genetic Background: FVB.Cg-Hspa5^baffled

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

mortality/aging

neonatal lethality, complete penetrance ( J:191772 )

nervous system

nervous system phenotype ( J:191772 )

N • mice exhibit normal forebrain patterning and guide cells populations for thalamocortical axons

abnormal neuron differentiation ( J:191772 )

• at E18.5, mice exhibit defects in thalamocortical axons and other cortical axon projections compared with wild-type mice

• thalamocortical and corticothalamic axons are delayed and overfasciculated

abnormal axon extension ( J:191772 )

• shorter average axon length for cortical neurons due to an intrinsic deficiency in axon extension

abnormal axon fasciculation ( J:191772 )

• thalamic and cortical axons exhibit thicker and nonparallel fascicles (overfasciculation) compared with wild-type mice

abnormal neuron proliferation ( J:191772 )

• at E15.5, proliferating neurons are located scattered and deeper compared to in wild-type mice

abnormal cortical intermediate zone morphology ( J:191772 )

• disorganized intermediate zone with larger bundles

forebrain hypoplasia ( J:191772 )

abnormal brain white matter morphology ( J:191772 )

• abnormal external capsule with some fascicles splitting off to an abnormal ventral pathways

abnormal corpus callosum morphology ( J:191772 )

• abnormally thin or displaying Probst bundles in most mice

abnormal brain internal capsule morphology ( J:191772 )

• with fewer, thicker fascicles

abnormal cerebral cortex morphology ( J:191772 )

• disorganized intermediate zone with larger bundles

• small with disordered lamination

abnormal stratification in cerebral cortex ( J:191772 )

• disordered lamination

• layers 5 and 6 are ragged and with a few labeled cells scattered in upper layers

abnormal cerebellum morphology ( J:191772 )

• at birth with reduced lobular definition

abnormal axon morphology ( J:191772 )

• shorter average axon length for cortical neurons due to an intrinsic deficiency in axon extension

respiratory system

respiratory failure ( J:191772 )

decreased surfactant secretion ( J:191772 )

growth/size/body

decreased body size ( J:191772 )

cellular

abnormal neuron differentiation ( J:191772 )

• at E18.5, mice exhibit defects in thalamocortical axons and other cortical axon projections compared with wild-type mice

• thalamocortical and corticothalamic axons are delayed and overfasciculated

abnormal axon extension ( J:191772 )

• shorter average axon length for cortical neurons due to an intrinsic deficiency in axon extension

abnormal axon fasciculation ( J:191772 )

• thalamic and cortical axons exhibit thicker and nonparallel fascicles (overfasciculation) compared with wild-type mice

abnormal neuron proliferation ( J:191772 )

• at E15.5, proliferating neurons are located scattered and deeper compared to in wild-type mice

Genotype
MGI:4889078

cx2

• Allelic Composition: Hspa5^baffled/Hspa5^baffled; Tg(Mbp-MAPT/lacZ)#aCaw/Tg(Mbp-MAPT/lacZ)#aCaw
• Genetic Background: involves: BALB/c * C57BL/6 * C57BL/6J * FVB/N

mortality/aging

neonatal lethality, complete penetrance ( J:168258 )

• mutants collected after birth died within hours (100%; 15 of 15)

nervous system

abnormal axon extension ( J:168258 )

• the thalamocortical axons are disorganized in the ventral telencephalon with some stalled at the corticostriatal boundary unlike in wild-type mice

abnormal axon fasciculation ( J:168258 )

• some thalamocortical axons are overfasciculated and stalling compared to in wild-type mice

abnormal telencephalon morphology ( J:168258 )

• the thalamocortical axons are disorganized in the ventral telencephalon with some stalled at the corticostriatal boundary unlike in wild-type mice

abnormal cortical intermediate zone morphology ( J:168258 )

• the intermediate zone contains large swollen bundles of axon compared with wild-type mice

abnormal hippocampus morphology ( J:168258 )

• round

abnormal cerebral cortex morphology ( J:168258 )

• slightly small

small olfactory bulb ( J:168258 )

• slightly small

renal/urinary system

small kidney ( J:168258 )

respiratory system

respiratory distress ( J:168258 )

cardiovascular system

hematoma ( J:168258 )

• under the nose in 20 of 21 mice

craniofacial

cleft palate ( J:168258 )

digestive/alimentary system

cleft palate ( J:168258 )

cellular

abnormal axon extension ( J:168258 )

• the thalamocortical axons are disorganized in the ventral telencephalon with some stalled at the corticostriatal boundary unlike in wild-type mice

abnormal axon fasciculation ( J:168258 )

• some thalamocortical axons are overfasciculated and stalling compared to in wild-type mice

growth/size/body

cleft palate ( J:168258 )