Phenotypes associated with this allele

• Allele Symbol: Nsdhl^tm1.1Hrm
• Allele Name: targeted mutation 1.1, Gail Herman
• Allele ID: MGI:5581334
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Nsdhl^tm1.1Hrm/Nsdhl^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA	MGI:5896532
cn2	Nsdhl^tm1.1Hrm/Y Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA	MGI:5896533
cn3	Nsdhl^tm1.1Hrm/Y Tg(GFAP-cre)25Mes/0	involves: 129S6/SvEvTac * C57BL/6J * FVB/N	MGI:5896534

Genotype
MGI:5896532

cn1

• Allelic Composition: Nsdhl^tm1.1Hrm/Nsdhl⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

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

integument

abnormal hair growth ( J:220990 )

♀ • patches of hairless skin

hyperkeratosis ( J:220990 )

♀ • patches of hyperkeratotic skin

growth/size/body

decreased body size ( J:220990 )

♀

skeleton

abnormal skeleton morphology ( J:220990 )

♀ • skeletal abnormalities

Genotype
MGI:5896533

cn2

• Allelic Composition: Nsdhl^tm1.1Hrm/Y; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

growth/size/body

postnatal growth retardation ( J:220990 )

♂ • growth curve falls behind controls starting around P7

Genotype
MGI:5896534

cn3

• Allelic Composition: Nsdhl^tm1.1Hrm/Y; Tg(GFAP-cre)25Mes/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * FVB/N

mortality/aging

premature death ( J:220990 )

♂ • die between P12-P20

behavior/neurological

ataxia ( J:220990 )

♂ • by P8 to P10

nervous system

thin external granule cell layer ( J:220990 )

♂ • thinner with fewer granule cell precursors at P5 and becoming progressively worse with age

♂ • at P8 only a single layer of granule cell precursors is present in severely affected mice

abnormal hippocampus morphology ( J:220990 )

♂ • appears disorganized with fewer hippocampal neurons

abnormal dentate gyrus morphology ( J:220990 )

♂ • fewer neurons present in the dentate gyrus at P0

abnormal hippocampus neuron morphology ( J:220990 )

♂ • fewer hippocampal neurons at P0 especially in the dentate gyrus

abnormal hippocampus granule cell morphology ( J:220990 )

♂ • reduced numbers and organization of granule neurons at P7

small hippocampus ( J:220990 )

♂ • at P7

abnormal cerebral cortex morphology ( J:220990 )

♂ • at P7

♂ • increase in pycnotic nuclei in the outer layer

abnormal Bergmann glial cell morphology ( J:220990 )

♂ • fewer, shorter cells that appear disorganized

abnormal cerebellar granule cell morphology ( J:220990 )

♂ • reduced numbers and organization of granule neurons at P7

♂ • decreased cholesterol levels and increased levels of sterol intermediates in granule cell precursors at P3, P5, and P7

decreased cerebellar granule cell number ( J:220990 )

♂ • at P7

small cerebellum ( J:220990 )

♂ • at P7

abnormal neurite morphology ( J:220990 )

♂ • cultured granule cell precursors produce fewer and thinner neurite extensions

♂ • cell morphology is improved with the addition of cholesterol to the culture medium

abnormal Purkinje cell dendrite morphology ( J:220990 )

♂ • cerebellar Purkinje cells fail to form extensive dendritic trees unlike wild-type controls

♂ • dendritic trees eventually degenerate

abnormal neuronal stem cell physiology ( J:220990 )

♂ • progressively reduced proliferation of granule cell precursors in cerebella starting at P5

♂ • increase in apoptosis of granule cell precursors in cerebella beginning at P7

♂ • cultured granule cell precurors show reduced proliferation that is largely restored with the addition of cholesterol to the culture medium