Phenotypes associated with this allele

• Allele Symbol: Gata3^tm3Gsv
• Allele Name: targeted mutation 3, Frank G Grosveld
• Allele ID: MGI:3696958
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Gata3^tm3Gsv/Gata3^tm3Gsv Tg(Dbh-icre)1Gsc/0	involves: 129P2/OlaHsd * C57BL/6	MGI:4821751
cn2	Gata3^tm3Gsv/Gata3^tm3Gsv Tg(Dbh-cre/ERT2)198.1Hroh/0	involves: 129P2/OlaHsd * C57BL/6	MGI:4821754
cn3	Gata3^tm3Gsv/Gata3^tm3Gsv Tg(KRT14-cre)8Brn/0	involves: 129P2/OlaHsd * FVB/N	MGI:3697461

Genotype
MGI:4821751

cn1

• Allelic Composition: Gata3^tm3Gsv/Gata3^tm3Gsv; Tg(Dbh-icre)1Gsc/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

embryo

abnormal embryo development ( J:163233 )

nervous system

abnormal sympathetic ganglion morphology ( J:163233 )

• decreased cell proliferation is observed at E11. and E12.5 (to 36 and 20% of controls respectively)

• levels of apoptotic cells is significantly increased at E11.5 and E13.5

• sympathetic ganglion size is reduced in area between E10.5 and 16.5 (3-fold decrease in area in contrast to 20-fold increase in size in controls)

• chromaffin cell numbers are decreased to <10% of those in controls at E13.5 (number of apoptotic chromaffin cells is strongly increased by E15.5); however, chromaffin cells in the adrenal glands are not affected

abnormal nervous system development ( J:163233 )

• at E13.5, area of cells expressing the autonomic lineage marker Phox2b and noradrenergic and neuronal markers is reduced to <10% of that in controls

Genotype
MGI:4821754

cn2

• Allelic Composition: Gata3^tm3Gsv/Gata3^tm3Gsv; Tg(Dbh-cre/ERT2)198.1Hroh/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

nervous system

abnormal sympathetic ganglion morphology ( J:163233 )

• induction of cre activity in adult mice results in significant reduction in size of sympathetic ganglia

small superior cervical ganglion ( J:163233 )

• sympathetic ganglion size reduction leads to a small residual superior cervical ganglion (SCG) and stellate ganglon

abnormal sympathetic neuron innervation pattern ( J:163233 )

• absence of sympathetic innervation of eyelid musculature

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:163233 )

N • area of chromaffin cells in adrenal medulla of tamoxifen-treated adult mice is not different from controls

vision/eye

blepharoptosis ( J:163233 )

• functional deficit in mutants occurs as ptosis due to SCG abnormalities (absence of sympathetic innervation of eyelid musculature)

Genotype
MGI:3697461

cn3

• Allelic Composition: Gata3^tm3Gsv/Gata3^tm3Gsv; Tg(KRT14-cre)8Brn/0
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

endocrine/exocrine glands

absent nipple ( J:117058 )

♀ • absence of visible nipples

enlarged sebaceous gland ( J:117058 )

• from P7 onwards

growth/size/body

decreased body size ( J:117058 )

weight loss ( J:117058 )

• during the first month of life

postnatal growth retardation ( J:117058 )

• apparent from P2 onwards

adipose tissue

absent subcutaneous adipose tissue ( J:117058 )

• reduced amount of subcutaneous adipose tissue

vision/eye

narrow eye opening ( J:117058 )

• eyes appear half-opened throughout life

hematopoietic system

decreased T cell number ( J:117058 )

• decrease in the number of CD3+ T cells and MHC class II cells in the skin

immune system

decreased T cell number ( J:117058 )

• decrease in the number of CD3+ T cells and MHC class II cells in the skin

homeostasis/metabolism

impaired skin barrier function ( J:117058 )

• slight delay in the development of skin barrier function at E16.5, E17.5, and E18.5

pigmentation

abnormal hair follicle melanin granule morphology ( J:117058 )

• pigment deposition is irregular and lacks the air spaces seen in wild-type hair

integument

absent subcutaneous adipose tissue ( J:117058 )

• reduced amount of subcutaneous adipose tissue

absent nipple ( J:117058 )

♀ • absence of visible nipples

enlarged sebaceous gland ( J:117058 )

• from P7 onwards

impaired skin barrier function ( J:117058 )

• slight delay in the development of skin barrier function at E16.5, E17.5, and E18.5

abnormal hair growth ( J:117058 )

delayed hair appearance ( J:117058 )

• mice remain bald at P10

progressive hair loss ( J:117058 )

• gradual loss of abdominal hair

• anterior to posterior shedding in the head area with limited hair regeneration

short hair ( J:117058 )

• hair that does grow is short and stubby

sparse hair ( J:117058 )

• sparse hair growth around the head and neck starting from P12

abnormal hair texture ( J:117058 )

• remaining hairs are irregular with a short, thick, and hard appearance and a rounded tip

abnormal hair follicle morphology ( J:117058 )

• in some follicles small cysts develop by 5 months of age

• increase in the number of cells expressing stem cell markers in distal hair follicles

• the hair follicle and epidermal stem cell marker expression domains are connected rather than separate as in wild-type mice

• expanded precortex and cortex

• a decrease in the number of proliferating cells close to the hair bulb

abnormal hair follicle melanin granule morphology ( J:117058 )

• pigment deposition is irregular and lacks the air spaces seen in wild-type hair

abnormal hair follicle inner root sheath morphology ( J:117058 )

• absence of the companion layer that normally separates AE15+ and K14+ cells in inner root sheath cells

• absence of Huxley's layer and cuticle of the inner root sheath

abnormal hair follicle orientation ( J:117058 )

• grow at a wider angle, often parallel to the skin surface

• however, the overall hair follicle number is not reduced

abnormal hair follicle outer root sheath morphology ( J:117058 )

• increase in the number of proliferating cells in the outer root sheath

thick hair follicle outer root sheath ( J:117058 )

• the outer root sheath is about twice as thick as in wild-type mice

short vibrissae ( J:117058 )

• short and thick

abnormal hair cycle ( J:117058 )

• catagen is prolonged lasting for 6 days after which hair follicles enter telogen where in most cases the proximal end of the follicle fails to reform

abnormal skin morphology ( J:117058 )

• decrease in the number of apoptotic cells

thin dermal layer ( J:117058 )

abnormal epidermal layer morphology ( J:117058 )

• increase in the number of cells expressing stem cell markers

• the hair follicle and epidermal stem cell marker expression domains are connected rather than separate as in wild-type mice

abnormal epidermis stratum basale morphology ( J:117058 )

• increase in the number of proliferating cells at P7 and P11-15

hyperkeratosis ( J:117058 )

epidermal hyperplasia ( J:117058 )

• pronounced hyperplasia beginning at P3

thick epidermis ( J:117058 )

• gradual, pronounce epidermal thickening that involves the basal and suprabasal layers

• the basal epidermal layer is about twice as thick as in wild-type

scaly skin ( J:117058 )

• squames cover the skin wrinkles

wrinkled skin ( J:117058 )

• develops after onset of epidermal hyperplasia

abnormal skin condition ( J:117058 )