Phenotypes associated with this allele

• Allele Symbol: Zeb2^tm1.1Yhi
• Allele Name: targeted mutation 1.1, Yujiro Higashi
• Allele ID: MGI:2387499
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Zeb2^tm1.1Yhi/Zeb2^tm1.1Yhi Tg(Pax6-cre)1Knd/0	involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6	MGI:3624749
cn2	Zeb2^tm1.1Yhi/Zeb2^tm1.1Yhi Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * FVB	MGI:3624750
cn3	Zeb2^tm1.1Yhi/Zeb2^tm1.1Yhi Tg(Dct-lacZ)A12Jkn/0 Tg(Tyr-cre)1Lru/Y	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * DBA/2	MGI:6220636
cn4	Zeb2^tm1.1Yhi/Zeb2^tm1.1Yhi Tg(Tyr-cre)1Lru/Y	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2	MGI:6220632
cn5	Zeb1^tm2Yhi/Zeb1^tm2Yhi Zeb2^tm1.1Yhi/Zeb2^tm1.1Yhi Tg(Zp3-cre)3Mrt/0	involves: 129S1/Sv * 129X1/SvJ * FVB/N * ICR	MGI:3653735

Genotype
MGI:3624749

cn1

• Allelic Composition: Zeb2^tm1.1Yhi/Zeb2^tm1.1Yhi; Tg(Pax6-cre)1Knd/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

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

vision/eye

abnormal lens morphology ( J:101730 )

• exhibit a persistent lens stalk at E13.5, E14.5 and even P0

abnormal lens fiber morphology ( J:101730 )

• arrest of lens fiber cell maturation at the bow-region stage

small lens ( J:101730 )

• increase in apoptotic cells in the lens results in a smaller lens size

Genotype
MGI:3624750

cn2

• Allelic Composition: Zeb2^tm1.1Yhi/Zeb2^tm1.1Yhi; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * FVB

vision/eye

abnormal lens morphology ( J:101730 )

• exhibit a persistent lens stalk at E13.5, E14.5 and even P0

abnormal lens fiber morphology ( J:101730 )

• arrest of lens fiber cell maturation at the bow-region stage

small lens ( J:101730 )

• increase in apoptotic cells in the lens results in a smaller lens size

Genotype
MGI:6220636

cn3

• Allelic Composition: Zeb2^tm1.1Yhi/Zeb2^tm1.1Yhi; Tg(Dct-lacZ)A12Jkn/0; Tg(Tyr-cre)1Lru/Y
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * DBA/2

pigmentation

abnormal hair follicle melanocyte morphology ( J:211299 )

♂ • at P5.5, mice show significantly fewer pigmented or LacZ+ hair follicles than control mice; also, completely undifferentiated hair follicles that are neither pigmented nor LacZ+ are observed, unlike in control mice

♂ • at P5.5, the total number of melanocytes (S100b+) per hair follicle is reduced by 40% relative to that in control mice

♂ • at P5.5, mice exhibit formation of undifferentiated melanocytes in the bulge area of hair follicles, along with loss of MITF (the master regulator of melanocyte development) and upregulation of ZEB1 expression

♂ • the number of MITF+ melanocytes is strongly reduced relative to the total number of melanocytes per hair follicle (S100b+ melanocytes), whereas the number of PAX3+ melanocytes is normal; also, MITF protein levels are reduced in MITF+ cells

♂ • most hair follicles are negative for terminal melanocyte differentiation markers, such as TYRP1 and tyrosinase enzymatic activity

♂ • mRNA expression of several melanocyte differentiation markers (Tyrp1,Tyr, Dct, Pmel, Mc1R and Mitf) is significantly down-regulated in skin at E15.5

abnormal melanosome morphology ( J:211299 )

♂ • at P5.5, a few remaining melanosomes are visible in some hair follicles; however, these melanosomes are spherical with irregular borders, unlike the rod-shaped melanosomes of control hair follicles

absent hair follicle melanin granules ( J:211299 )

♂ • at P5.5, ZEB2-stained sections revealed absence of melanin in most melanocytes of the bulb area

reduced hair shaft melanin granule number ( J:211299 )

♂ • at P5.5, ZEB2-stained sections revealed absence of melanin in the hair shafts

integument

abnormal hair follicle melanocyte morphology ( J:211299 )

♂ • at P5.5, mice show significantly fewer pigmented or LacZ+ hair follicles than control mice; also, completely undifferentiated hair follicles that are neither pigmented nor LacZ+ are observed, unlike in control mice

♂ • at P5.5, the total number of melanocytes (S100b+) per hair follicle is reduced by 40% relative to that in control mice

♂ • at P5.5, mice exhibit formation of undifferentiated melanocytes in the bulge area of hair follicles, along with loss of MITF (the master regulator of melanocyte development) and upregulation of ZEB1 expression

♂ • the number of MITF+ melanocytes is strongly reduced relative to the total number of melanocytes per hair follicle (S100b+ melanocytes), whereas the number of PAX3+ melanocytes is normal; also, MITF protein levels are reduced in MITF+ cells

♂ • most hair follicles are negative for terminal melanocyte differentiation markers, such as TYRP1 and tyrosinase enzymatic activity

♂ • mRNA expression of several melanocyte differentiation markers (Tyrp1,Tyr, Dct, Pmel, Mc1R and Mitf) is significantly down-regulated in skin at E15.5

absent hair follicle melanin granules ( J:211299 )

♂ • at P5.5, ZEB2-stained sections revealed absence of melanin in most melanocytes of the bulb area

reduced hair shaft melanin granule number ( J:211299 )

♂ • at P5.5, ZEB2-stained sections revealed absence of melanin in the hair shafts

abnormal hair follicle bulge morphology ( J:211299 )

♂ • mice show a reduction in LacZ+ melanocyte stem cells in the bulge area relative to control mice, consistent with fewer melanoblasts found in the epidermis

embryo

abnormal melanoblast migration ( J:211299 )

♂ • at E15.5, the number of LacZ+ melanoblasts in the epidermis of both the belly and the back is significantly lower than that in control embryos; however, 30% of them reach the dorsal area (back) at E15.5

♂ • at P5.5, some hair follicles are still LacZ+ and/or (hypo-)pigmented, indicating that melanoblasts can migrate and populate the bulb area of the hair follicles

♂ • the number of melanoblasts present in the dermis at E15.5 is normal

abnormal melanoblast morphology ( J:211299 )

♂ • at E15.5, the number of LacZ+ melanoblasts is significantly reduced in both dorsal and ventral areas relative to control embryos; melanoblast numbers are reduced more on the belly (95%) than on the back (70%), consistent with a migration defect

♂ • at E15.5, melanoblasts exhibit less cell protrusions than control cells

nervous system

abnormal melanoblast morphology ( J:211299 )

♂ • at E15.5, the number of LacZ+ melanoblasts is significantly reduced in both dorsal and ventral areas relative to control embryos; melanoblast numbers are reduced more on the belly (95%) than on the back (70%), consistent with a migration defect

♂ • at E15.5, melanoblasts exhibit less cell protrusions than control cells

cellular

abnormal melanoblast migration ( J:211299 )

♂ • at E15.5, the number of LacZ+ melanoblasts in the epidermis of both the belly and the back is significantly lower than that in control embryos; however, 30% of them reach the dorsal area (back) at E15.5

♂ • at P5.5, some hair follicles are still LacZ+ and/or (hypo-)pigmented, indicating that melanoblasts can migrate and populate the bulb area of the hair follicles

♂ • the number of melanoblasts present in the dermis at E15.5 is normal

Genotype
MGI:6220632

cn4

• Allelic Composition: Zeb2^tm1.1Yhi/Zeb2^tm1.1Yhi; Tg(Tyr-cre)1Lru/Y
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

pigmentation

reduced hair shaft melanin granule number ( J:211299 )

♂ • at 4-6 months of age, the melanin content of the dorsal and ventral hair shafts is reduced by 93% and 91%, respectively

♂ • light microscopy confirmed the loss of melanin pigment from the hair shafts; however, hair with mixed pigmentation are also observed

hypopigmentation ( J:211299 )

♂ • mice show severe congenital loss of hair pigmentation relative to control mice

♂ • loss of hair pigmentation is evident from the first hair cycle and continues through adulthood

♂ • however, eyes remain pigmented

integument

reduced hair shaft melanin granule number ( J:211299 )

♂ • at 4-6 months of age, the melanin content of the dorsal and ventral hair shafts is reduced by 93% and 91%, respectively

♂ • light microscopy confirmed the loss of melanin pigment from the hair shafts; however, hair with mixed pigmentation are also observed

Genotype
MGI:3653735

cn5

• Allelic Composition: Zeb1^tm2Yhi/Zeb1^tm2Yhi; Zeb2^tm1.1Yhi/Zeb2^tm1.1Yhi; Tg(Zp3-cre)3Mrt/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N * ICR

mortality/aging

embryonic lethality between somite formation and embryo turning, complete penetrance ( J:108819 )

• do not survive after E8.5

embryo

failure of initiation of embryo turning ( J:108819 )

• embryo turning does not occur

embryonic growth arrest ( J:108819 )

• developmental arrest around E8.5

abnormal neural plate morphology ( J:108819 )

• defects in neural plate as shown by decreased Sox2 expression

abnormal neural tube morphology ( J:108819 )

• exhibit a marked thinning of the portion that normally forms the dorsal half of the neural tube

open neural tube ( J:108819 )

• neural tube fails to close; exhibit a wider opening of the neural tube than single homozygous Zfhx1b mice

abnormal somite development ( J:108819 )

• somite cleavage stops at somite 7 while embryo elongation continues

• aberrant positioning of somite cleavage with normal production of presomitic mesoderm

decreased somite size ( J:108819 )

• short somites

nervous system

abnormal neural plate morphology ( J:108819 )

• defects in neural plate as shown by decreased Sox2 expression

abnormal neural tube morphology ( J:108819 )

• exhibit a marked thinning of the portion that normally forms the dorsal half of the neural tube

open neural tube ( J:108819 )

• neural tube fails to close; exhibit a wider opening of the neural tube than single homozygous Zfhx1b mice